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1.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(8): 749-752, 2021 Aug 10.
Artículo en Chino | MEDLINE | ID: mdl-34365616

RESUMEN

OBJECTIVE: To explore the genetic basis for a Chinese patient featuring cleidocranial dysplasia(CCD). METHODS: Genomic DNA was extracted from peripheral blood samples of the patient and his parents. Whole exome sequencing (WES) was carried out for the patient, and suspected variant was verified by Sanger sequencing. RESULTS: WES has identified a missense c.460G>T (p.Val154Phe) (GRCh37/hg19) variant of the RUNX2 gene. The variant was located in the Runt domain, a highly conserved region (PM1); it was not present in either the Genome Aggregation Database or the 1000 Genomes Project (PM2), and was predicted to have a deleterious effect on the gene product by multiple in silico prediction tools (PP3); the clinical phenotype of the patient was highly consistent with that of cleidocranial dysplasia (PP4). Furthermore, the variant was unreported in medical literature and was absent in both parents (PS2). Based on the American College of Medical Genetics and Genomics guidelines, the c.460 G>T variant of RUNX2 gene was predicted to be pathogenic (PS2+PM1+PM2+PP3+PP4). CONCLUSION: The c.460G>T (p.Val154Phe) variant of the RUNX2 gene probably underlay the clinical phenotype in the patient. Above finding has enabled accurate diagnosis and expanded the spectrum of RUNX2 variants.


Asunto(s)
Displasia Cleidocraneal , China , Displasia Cleidocraneal/genética , Subunidad alfa 1 del Factor de Unión al Sitio Principal/genética , Humanos , Mutación , Secuenciación del Exoma Completo
2.
Pan Afr Med J ; 38: 368, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34367447

RESUMEN

Cleidocranial Dysostosis or Dysplasia (CCD) is an infrequent clinical condition, with an autosomal dominant hereditary mode of inheritance. Triad lesions: multiple supernumerary teeth, partial or complete absence of the clavicles and open sagittal sutures and fontanelles. Nine-year-old female patient comes to our service for outpatient consultation with the main complaint of upper limbs mobility restriction with shoulders hypermotility. The chest X-ray showed partial absence of the clavicles and a cone-shaped thorax. The diagnosis of CCD was performed. Treatment of these patients requires a multidisciplinary approach which includes orthopaedic and dental corrections. The premature diagnosis allows a proper orientation for the treatment, offering a better life quality for the patient.


Asunto(s)
Displasia Cleidocraneal/terapia , Atención Odontológica/métodos , Procedimientos Ortopédicos/métodos , Niño , Displasia Cleidocraneal/diagnóstico por imagen , Femenino , Humanos , Radiografía Torácica
3.
Rev. cient. odontol ; 9(2): e063, abr.-jun. 2021. ilus
Artículo en Inglés | LILACS, LIPECS | ID: biblio-1254602

RESUMEN

Cleidocranial dysplasia (CCD), also known as Marie-Sainton syndrome, is a rare disorder of autosomal dominant type that presents specific characteristics at the skeletal and dental level. The diagnosis of CCD is based on clinical and radiographic findings. Panoramic, cephalometric and anterior poster radiographs have been used for its diagnosis in dentistry. However, these radiological techniques have limitations, and advances in technology with new imaging studies such as magnetic resonance imaging (MRI) and ultrasound have emerged, contributing to the diagnosis of CCD. Therefore, the aim of this review was to identify and describe current imaging studies that contribute to both the diagnosis and adequate and efficient treatment planning of CCD, and describe the clinical and radiographic characteristics of patients with this syndrome. (AU)


La displasia cleidocraneal (DCC), también conocida como síndrome de Marie-Sainton, es un trastorno poco común de tipo autosómico dominante, que presenta características específicas a nivel esquelético y dental. El diagnóstico de DCC se basa en hallazgos clínicos y radiográficos. Las radiografías panorámicas, cefalométricas y posteroanteriores se han utilizado para su diagnóstico en el área de la odontología, pero con los avances de la tecnología y debido a las limitaciones de estas técnicas radiológicas han surgido nuevos estudios de imagen como la resonancia magnética (RM) y la ecografía, que contribuyen al diagnóstico de DCC. Por lo tanto, el propósito de esta revisión fue identificar y describir los estudios de imagen actuales que aportan tanto al diagnóstico como a la planificación del tratamiento adecuado y eficiente de la DCC, y permiten describir las características clínicas y radiográficas de los pacientes con este síndrome. (AU)


Asunto(s)
Radiografía Panorámica , Displasia Cleidocraneal , Displasia Cleidocraneal/diagnóstico por imagen , Tomografía Computarizada de Haz Cónico
4.
Bone ; 146: 115904, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-33647526

RESUMEN

Cleidocranial dysplasia is a dominantly inherited skeletal dysplasia resulting from inherited or spontaneous mutations of Runt-related transcription factor 2 gene (RUNX2). It represents a clinical continuum typically characterized by wide calvarial sutures, clavicular hypoplasia and dental abnormalities. CDD has been rarely associated with skeletal and biochemical features that mimic hypophosphatasia. We report clinical, biochemical and molecular profile of a 3-year-old female with CCD, presented in utero with large cranial defects. She displayed severe parietal dysplasia, wide cranial sutures, clavicular abnormalities and biochemical features of hypophospatasia (HHP). She was preliminary diagnosed with benign perinatal HHP, harboring a likely pathogenic heterozygous TNSALP variant (p.Ser181Leu) inherited by the mother, who also displayed low levels of ALP. Asfotase alfa was introduced for a six-month-period with rather positive impact on cranial ossification. Nevertheless, focal skeletal disease (cranium and clavicles) and absence of clinical symptoms in the mother, carrier of the same genetic variant, posed diagnosis into question and further genetic analysis detected the novel spontaneous frameshift mutation c.1191delC (p.Phe398Leufs*86) in RUNX2 gene, establishing the CCD diagnosis. Although genotype-phenotype correlations are difficult, p.Phe398Leufs*86 appears to be associated with a severe cranial phenotype and absence of parietal bones, similarly to other adjacent frameshift/splicing mutations. The TNSALP variant (p.Ser181Leu) may contributed to patient's final phenotype, as well as to maternal low ALP levels. However, since low ALP levels have been also reported in few CCD patients with no alterations in TNSALP gene, studies to elucidate RUNX2 and TNSALP interactions could shed more light on differential diagnosis between CCD and HHP, CCD appropriate therapy and genetic counselling. ACCESSION NUMBER: (SUB8185506).


Asunto(s)
Displasia Cleidocraneal , Hipofosfatasia , Preescolar , Displasia Cleidocraneal/genética , Subunidad alfa 1 del Factor de Unión al Sitio Principal/genética , Femenino , Humanos , Hipofosfatasia/genética , Mutación/genética , Fenotipo
5.
J Craniofac Surg ; 32(6): e541-e544, 2021 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-33538445

RESUMEN

ABSTRACT: Cleidocranial dysplasia (CCD) is an uncommon autosomal dominant disease, characterized by hypoplasia of clavicles, delayed fontanelle closure, dental anomalies, and short stature. It has been reported in the literature that the pathogenic variants of Runt-related transcription factor 2 (RUNX2) gene are correlated with CCD patients.Here, we report a consanguineous Chinese family with 2 patients suffering from CCD, presenting similar skeleton and dentition malformation. Upon whole-exome sequencing, 52863 variants were detected in the propositus. Based on the genotype phenotype correlation, a frameshift deletion c.1554delG p.(Trp518Cysfs∗61), located in exon 8 of RUNX2, remained after filtration. For Sanger sequencing, all exons of the RUNX2 gene in members of this Chinese family were amplified by polymerase chain reaction. Mutation mentioned above was confirmed in the propositus and his mother, which has not been reported previously and cannot be found in the publicly available databases. The present study expands the pathogenic variant spectrum of RUNX2 gene and contributes to molecular diagnosis.


Asunto(s)
Displasia Cleidocraneal , Subunidad alfa 1 del Factor de Unión al Sitio Principal , Enanismo , China , Displasia Cleidocraneal/genética , Consanguinidad , Subunidad alfa 1 del Factor de Unión al Sitio Principal/genética , Humanos , Mutación
6.
Stem Cell Res ; 51: 102166, 2021 03.
Artículo en Inglés | MEDLINE | ID: mdl-33477036

RESUMEN

Cleidocranial dysplasia (CCD; MIM #119600) is an autosomal dominant genetic disorder caused by heterozygous loss-of-function mutation of the RUNX2 gene, which is important in the differentiation of osteoblasts and maturation of chondrocytes. In this study, we generated an induced pluripotent stem cell line GZHMCi003-A derived from umbilical cord blood mononuclear cells (UCBMCs) of a fetus with heterozygous deletion of the exon 3 in RUNX2 gene. This iPSC line is an ideal in vitro model to study the pathological mechanism and the treatment of CCD.


Asunto(s)
Displasia Cleidocraneal , Células Madre Pluripotentes Inducidas , Displasia Cleidocraneal/genética , Subunidad alfa 1 del Factor de Unión al Sitio Principal/genética , Exones/genética , Feto , Humanos
7.
Gen Thorac Cardiovasc Surg ; 69(3): 538-541, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-32929692

RESUMEN

Cleidocranial dysplasia is an autosomal skeletal disorder resulting from delayed or abnormal ossification of bony growth. Pectus excavatum independently presented in a 9-year-old boy with cleidocranial dysplasia and was corrected using the Nuss procedure. There were no perioperative complications, and the post-operative course was uneventful. Although there were concerns regarding extraordinary late consolidation or remodeling of the bony thorax, placement of a Nuss plate for 5 years and 6 months improved the patient's concave deformity without re-depression.


Asunto(s)
Displasia Cleidocraneal , Tórax en Embudo , Anomalías Musculoesqueléticas , Niño , Displasia Cleidocraneal/diagnóstico por imagen , Displasia Cleidocraneal/genética , Displasia Cleidocraneal/cirugía , Tórax en Embudo/diagnóstico por imagen , Tórax en Embudo/cirugía , Humanos , Masculino , Periodo Posoperatorio
8.
Childs Nerv Syst ; 37(2): 683-686, 2021 02.
Artículo en Inglés | MEDLINE | ID: mdl-32504170

RESUMEN

BACKGROUND: Cleidocranial dysostosis (CCD) is an anomaly characterized by delayed closure of the cranial sutures, midface hypoplasia, moderately short stature, hypoplastic or aplastic clavicles, dental abnormalities, and other complications. CASE PRESENTATION: We report a case of posterior fossa subdural hematoma (PFSDH) after vaginal delivery in a neonate with CCD, which presented with several clinical symptoms such as apnea, vomiting, and bradycardia. Our patient, who had a family history of CCD, developed apnea and vomiting shortly after birth; PFSDH was detected by head computed tomography, and the patient recovered well following standard medical treatment. CONCLUSION: The prognosis of intracranial hemorrhage in neonates with CCD is generally poor. In neonates, PFSDH occurs by the following mechanism: the distortion of the infant's cranium during delivery, by the strong force, causes elongation of the falx and angulation of the tentorium that leads to tears in the posterior fossa venous structures, which then cause bleeding into the subdural space. In CCD, the forces occurring during vaginal delivery may causeexcessive distortion of the fragile skull. An awareness of CCD is hence important to avoid vaginal delivery in prenatally diagnosed CCD cases with a family history of CCD.


Asunto(s)
Displasia Cleidocraneal , Suturas Craneales , Parto Obstétrico , Femenino , Hematoma Subdural/diagnóstico por imagen , Hematoma Subdural/etiología , Humanos , Lactante , Recién Nacido , Embarazo , Tomografía Computarizada por Rayos X
9.
J Dent Res ; 100(4): 423-431, 2021 04.
Artículo en Inglés | MEDLINE | ID: mdl-33143523

RESUMEN

Patients with cleidocranial dysplasia (CCD) caused by mutations in RUNX2 have severe dental anomalies, including delayed or absent eruption of permanent teeth. This requires painful and expensive surgical/orthodontic intervention because of the absence of medicine for this condition. Here, we demonstrate that nicotinamide, a vitamin B3 and class III histone deacetylase inhibitor, significantly improves delayed tooth eruption in Runx2+/- mice, a well-known CCD animal model, through the restoration of decreased osteoclastogenesis. We also found that Csf1 mRNA and protein levels were significantly reduced in Runx2+/- osteoblasts as compared with wild type whereas RANKL and OPG levels had no significant difference between wild type and Runx2+/- osteoblasts. The nicotinamide-induced restoration of osteoclastogenesis of bone marrow-derived macrophages in Runx2+/- mice was due to the increased expression of RUNX2 and CSF1 and increased RANKL/OPG ratio. RUNX2 directly regulated Csf1 mRNA expression via binding to the promoter region of the Csf1 gene. In addition, nicotinamide enhanced the RUNX2 protein level and transacting activity posttranslationally with Sirt2 inhibition. Taken together, our study shows the potential and underlying molecular mechanism of nicotinamide for the treatment of delayed tooth eruption by using the Runx2+/- murine model, suggesting nicotinamide as a candidate therapeutic drug for dental abnormalities in patients with CCD.


Asunto(s)
Displasia Cleidocraneal , Subunidad alfa 1 del Factor de Unión al Sitio Principal , Animales , Ratones , Niacinamida/farmacología , Osteoclastos , Erupción Dental
10.
Spec Care Dentist ; 41(1): 111-117, 2021 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-33080065

RESUMEN

Cleidocranial dysplasia (CCD) is a rare bone disorder. The main dental features are the presence of multiple retained deciduous teeth and supernumerary teeth, as well as unerupted permanent teeth. To date, CCD is managed by a combination approach, which consists of the extraction of deciduous and supernumerary teeth, followed by orthodontic traction of unerupted permanent teeth. This case highlights the management of a girl with CCD, who refused the recommended protocol. A 15-year-old Malay female presented with a complaint of retained deciduous teeth. Intraoral examination revealed multiple retained deciduous teeth. Radiographs showed numerous impacted supernumerary and unerupted permanent teeth. The patient opted to improve her facial appearance with a less aggressive treatment option. A composite build-up on all anterior maxillary deciduous teeth was carried out until the patient was ready to undergo surgical intervention.


Asunto(s)
Displasia Cleidocraneal , Anomalías Dentarias , Diente Impactado , Diente Supernumerario , Adolescente , Displasia Cleidocraneal/diagnóstico por imagen , Femenino , Humanos , Erupción Dental , Diente Impactado/diagnóstico por imagen , Diente Impactado/cirugía , Diente Supernumerario/diagnóstico por imagen , Diente Supernumerario/cirugía
11.
Rev. Odontol. Araçatuba (Impr.) ; 41(3): 48-54, set./dez. 2020. ilus
Artículo en Portugués | LILACS, BBO - Odontología | ID: biblio-1121747

RESUMEN

A Disostose Cleidocraniana (DC), também conhecida como Displasia Cleidocraniana (DCC), é uma doença autossômica de caráter dominante, relatada pela primeira vez no século XVIII, sendo descrita em 1897 por Pierre Marie e Paul Sainton, relacionando-a a fatores genéticos. Suas manifestações clínicas apresentam-se através do desenvolvimento tardio de estruturas e defeitos ósseos, anormalidades estomatognáticas e craniofaciais. O diagnóstico baseia-se nas características clínicas e imaginológicas e o tratamento odontológico geralmente é cirúrgico, envolvendo a exodontia de unidades supranumerárias e decíduas, em associação com a abordagem ortodôntica. Este trabalho possui como objetivo, relatar o caso clínico sobre as principais manifestações bucais evidenciadas em uma paciente jovem diagnosticado com Displasia Cleidocraniana, bem como demonstrar a importância do diagnóstico preciso para auxílio no sucesso do tratamento e qualidade de vida do paciente(AU)


Cleidocranial Dysostosis (CD), also known as Cleidocranial Dysplasia (DCC), is an autosomal dominant disease, first reported in the 18th century, being described in 1897 by Pierre Marie and Paul Sainton, relating it to genetic factors. Its clinical manifestations appear through the late development of bone structures and defects, stomatognathic and craniofacial abnormalities. The diagnosis is based on clinical and imaging characteristics and dental treatment is usually surgical, involving the extraction of supernumerary and deciduous units, in association with the orthodontic approach. This work aims to report the clinical case about the main oral manifestations evidenced in a young patient diagnosed with Cleidocranial Dysplasia, as well as to demonstrate the importance of accurate diagnosis to aid in the success of the treatment and quality of life of the patient(AU)


Asunto(s)
Atención Odontológica , Displasia Cleidocraneal , Anomalías Craneofaciales , Procedimientos Quirúrgicos Orales
12.
Rev Med Liege ; 75(10): 639-643, 2020 Oct.
Artículo en Francés | MEDLINE | ID: mdl-33030838

RESUMEN

The Pierre-Marie Sainton syndrome or cleidocranial dysplasia is a rare congenital malformation due to a mutation in the RUNX2 gene, causing disruption in osteoblastic maturation, which results in various skeletal, dental and endocrine abnormalities. These various disorders may also have otorhinolaryngology and psychological consequences. We report the case of a patient with this rare birth defect.


Asunto(s)
Displasia Cleidocraneal , Displasia Cleidocraneal/diagnóstico , Displasia Cleidocraneal/genética , Humanos , Mutación
14.
Eur Rev Med Pharmacol Sci ; 24(16): 8281-8287, 2020 08.
Artículo en Inglés | MEDLINE | ID: mdl-32894534

RESUMEN

OBJECTIVE: The description of clinical manifestation of hearing problems in cleidocranial dysplasia (CCD) remains limited and incomplete, since CCD constitutes a rare congenital disorder. The study aims to provide a complex panel analysis of the auditory system in patients suffering from the disease. PATIENTS AND METHODS: The study group consisted of 4 children with CCD (aged: 12-15), who underwent orthodontic treatment. A full panel analysis of their auditory systems was performed, including high-frequency audiometry and a new method of middle ear assessment - WBT (Wideband Tympanometry). RESULTS: A slight conductive hearing loss was diagnosed in 3 out of 4 patients. While high frequency audiometry has shown a deterioration of hearing in 3 patients, in one case, the obtained thresholds were within the normal range. A decrease of absorbance in low frequencies has been observed in one or both ears. Only one patient has had a shift of maximum absorbance towards high frequencies in the left ear. CONCLUSIONS: The presented manuscript is the first with a complete evaluation of the auditory system comprising 4 cases of children in a similar age group. All of the examined patients presented an air-bone gap indicating conductive disorders.


Asunto(s)
Audiometría de Tonos Puros , Umbral Auditivo , Displasia Cleidocraneal/diagnóstico , Pruebas de Impedancia Acústica , Estimulación Acústica , Adolescente , Niño , Femenino , Humanos , Masculino
15.
J Ayub Med Coll Abbottabad ; 32(3): 405-407, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32829560

RESUMEN

Cleidocranial dysplasia is a rare autosomal dominant disorder of bones mainly affecting bones formed by intra-membranous and endochondral ossification. It presents clinically as brachycephalic skull, frontal bossing, depressed nasal bridge, hypertelorism, delayed closure of fontanelles, delayed eruption of permanent teeth, missing clavicles and wide pelvis. It runs in families; sporadic cases are rarer. Just over than 1000 cases have been reported. We are presenting here 2 cases of cleidocranial dysplasia in siblings.


Asunto(s)
Displasia Cleidocraneal , Enfermedades Dentales , Niño , Clavícula/anomalías , Femenino , Humanos , Masculino , Mandíbula/diagnóstico por imagen , Mandíbula/patología , Diente/diagnóstico por imagen , Diente/patología , Erupción Dental
16.
Childs Nerv Syst ; 36(12): 2913-2918, 2020 12.
Artículo en Inglés | MEDLINE | ID: mdl-32734401

RESUMEN

BACKGROUND AND AIM: Cleidocranial dysplasia is a rare disorder of skeletal development that mainly promotes, among other malformations, inadequate development of clavicles and failure in cranial closure. In this affection, the role of neurosurgery in addressing cranial defects is rarely discussed. MATERIAL AND METHODS: We conducted an extensive review of the literature using the PubMed database, giving a greater focus to publications in the field of neurosurgery. Additionally, we report a case of a 2-year-old female child with cleidocranial dysplasia. RESULTS: In our review, we encountered several cases of orthodontic implications but a few cases on cranial defect approach. CONCLUSION: The articles present literature that is unanimous on the recommendation of expectant conduct in children since the cranial block can occur spontaneously, even if the delayed form. In our approach, we opted for an expected strategy concerning the cranial defect, using a helmet made for brain protection. We also made the referral for multidisciplinary monitoring of pediatrics, neuropediatrics, ophthalmology, dentistry, and orthopedics.


Asunto(s)
Displasia Cleidocraneal , Niño , Preescolar , Displasia Cleidocraneal/diagnóstico por imagen , Femenino , Dispositivos de Protección de la Cabeza , Humanos , Cráneo
17.
Bone ; 141: 115582, 2020 12.
Artículo en Inglés | MEDLINE | ID: mdl-32795676

RESUMEN

Non-coding RNAs (ncRNAs) comprise a major portion of transcripts and serve an essential role in biological processes. Although the importance of major transcriptomes in osteogenesis has been extensively studied, the function of ncRNAs in human osteogenesis remains unclear. Previously, we developed hiPSCs from patients with cleidocranial dysplasia (CCD) caused by runt-related transcription factor 2 (RUNX2) haploinsufficiency. To gain insight into ncRNAs in osteogenesis, we surveyed differential ncRNA expression profiling and promoter differences of RUNX2 using patient-specific iPSCs and cap analysis gene expression (CAGE) technology to define the promoter landscape. Revertant iPSCs (Rev1 iPSCs) edited by CRISPR/Cas9 system to harbor mutation-corrected RUNX2 exhibited increased proximal promoter expression of RUNX2, while CCD iPSCs did not. We identified 2271 ncRNA genes with altered expression levels before and after differentiation, 31 of which showed at least 20-fold higher expression in Rev1 iPSCs. Bioinformatic analysis also categorized AC007392.3, LINC00379, RP11-122D10.1, and RP11-90J7.2 as enhancer regulatory regions, and HOXA-AS2, MIR219-2, and RP11-834C11.3 as dyadic regulatory regions of these ncRNAs. In addition, two miRNAs, termed MIR199A2 and MIR152, were found to have high enrichment of osteogenic-related terms. Upon further examination of the role of MIR152 on osteoblast differentiation, we found that MIR152 knockdown induced upregulation of ALP and COL1A1 in Saos-2 cells. Thus, ncRNAs were found to regulate the osteogenic differentiation potentials of hiPSCs that are used for bone regeneration and repair owing to their differentiation potentials. These data allow understanding ncRNA profiles of hiPSCs during osteogenesis.


Asunto(s)
Displasia Cleidocraneal , Células Madre Pluripotentes Inducidas , MicroARNs , Diferenciación Celular/genética , Displasia Cleidocraneal/genética , Subunidad alfa 1 del Factor de Unión al Sitio Principal/genética , Expresión Génica , Humanos , Osteoblastos , Osteogénesis/genética
18.
Rev. ADM ; 77(4): 222-226, jul.-ago. 2020. ilus
Artículo en Español | LILACS | ID: biblio-1130183

RESUMEN

Introducción: La disostosis cleidocraneal es un trastorno genético raro con patrón hereditario. Sus rasgos patognomónicos son la aplasia clavicular, fontanelas y suturas abiertas, múltiples anomalías dentales. Su origen se relaciona con alteraciones en el gen RUNX2, importante para la síntesis de CBFA1, que a su vez funciona como un conformador óseo y un diferenciador de osteoblastos. Caso clínico: Paciente de 11 años con características clínicas de CCD, se corroboran los antecedentes genéticos hereditarios y alteraciones dentales relacionados con disostosis cleidocraneal. Resultado: A tres años de tratamiento se observa mejor definición facial, la erupción de piezas permanentes retenidas y mejor función masticatoria. Conclusión: Mejorar la calidad de vida del paciente con tratamientos interceptivos y el conocimiento de las alteraciones causadas por el síndrome, así como el trabajo interdisciplinario (AU)


Introduction: Cleidocranial dysostosis is a rare genetic disorder with a hereditary pattern. Its pathognomonic features are clavicular aplasia, fontanelles and open sutures, multiple dental anomalies. Its origin is related to alterations in the RUNX2 gene, important for the synthesis of CBFA1, which in turn functions as a bone conformer and an osteoblast differentiator. Clinical case: Patient with eleven years old with clinical characteristics of CCD, hereditary genetic background, and dental alterations related to cleidocranial dysostosis are corroborated. Result: After three years of treatment, the facial definition is better, the eruption of permanent pieces retained and better chewing function. Conclusion: Improve the quality of life of the patient with interceptive treatments and the knowledge of the alterations caused by the syndrome, as well as the interdisciplinary work (AU)


Asunto(s)
Humanos , Femenino , Niño , Ortodoncia Interceptiva , Anomalías Dentarias/terapia , Displasia Cleidocraneal/terapia , Enfermedades Genéticas Congénitas , Grupo de Atención al Paciente , Calidad de Vida , Facultades de Odontología , Erupción Dental , México
19.
Nat Commun ; 11(1): 2289, 2020 05 08.
Artículo en Inglés | MEDLINE | ID: mdl-32385263

RESUMEN

The osteoblast differentiation capacity of skeletal stem cells (SSCs) must be tightly regulated, as inadequate bone formation results in low bone mass and skeletal fragility, and over-exuberant osteogenesis results in heterotopic ossification (HO) of soft tissues. RUNX2 is essential for tuning this balance, but the mechanisms of posttranslational control of RUNX2 remain to be fully elucidated. Here, we identify that a CK2/HAUSP pathway is a key regulator of RUNX2 stability, as Casein kinase 2 (CK2) phosphorylates RUNX2, recruiting the deubiquitinase herpesvirus-associated ubiquitin-specific protease (HAUSP), which stabilizes RUNX2 by diverting it away from ubiquitin-dependent proteasomal degradation. This pathway is important for both the commitment of SSCs to osteoprogenitors and their subsequent maturation. This CK2/HAUSP/RUNX2 pathway is also necessary for HO, as its inhibition blocked HO in multiple models. Collectively, active deubiquitination of RUNX2 is required for bone formation and this CK2/HAUSP deubiquitination pathway offers therapeutic opportunities for disorders of inappropriate mineralization.


Asunto(s)
Subunidad alfa 1 del Factor de Unión al Sitio Principal/metabolismo , Osificación Heterotópica/metabolismo , Osteogénesis , Adulto , Anciano , Animales , Quinasa de la Caseína II/genética , Quinasa de la Caseína II/metabolismo , Diferenciación Celular , Displasia Cleidocraneal/genética , Displasia Cleidocraneal/patología , Femenino , Eliminación de Gen , Haploinsuficiencia/genética , Miembro Posterior/metabolismo , Humanos , Masculino , Ratones Endogámicos C57BL , Persona de Mediana Edad , Osificación Heterotópica/genética , Osificación Heterotópica/patología , Osteoblastos/metabolismo , Fosforilación , Estabilidad Proteica , ARN Mensajero/genética , ARN Mensajero/metabolismo , Peptidasa Específica de Ubiquitina 7/metabolismo
20.
J Craniofac Surg ; 31(4): 908-911, 2020 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-32224772

RESUMEN

Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder caused by mutations in the Runx2 gene. The CCD is characterized by frontal bossing, a patent anterior fontanelle, presence of Wormian bones, midface hypoplasia, multiple dental abnormalities, clavicular hypoplasia or aplasia, skeletal abnormalities, and short stature. The aims of this study are to report the phenotypic manifestations of all patients who presented with CCD and to review the multidisciplinary management of these patients. The longitudinal data of patients with a diagnosis of CCD treated at The Australian Craniofacial Unit from 1980 to 2019 were reviewed. Fourteen patients were identified for inclusion in this study. The age at referral to the unit ranged from 1 week old to 49 years old (mean 11.2 years old). All patients had clinical features of frontal bossing, a patent anterior fontanelle, multiple Wormian bones, midface hypoplasia, abnormal dentition, clavicular hypoplasia/aplasia, and normal intellect. Eleven patients had obstructive sleep apnea. Eight patients had positive family history. Speech issues were found in 6 patients and abnormal hearing was found in 4 patients. Seven patients who underwent skeletal survey were found to have skeletal abnormalities. All patients were evaluated and managed by the multidisciplinary team, which consisted of craniofacial surgeons, pediatric dentists, orthodontists, ENT surgeons, pediatricians, clinical geneticists, radiologists, orthopedic surgeons, and social workers. All patients were treated by dentists/orthodontists requiring multiple surgical interventions and orthodontic treatment. Seven patients who had recurrent ear infection underwent ventilation tube insertion. Seven of 11 patients who had obstructive sleep apnea underwent adenotonsillectomy. Four patients underwent orthognathic surgery to correct midface hypoplasia and malocclusion. Two patients had cranioplasty for correction of metopic depressions. The characteristic findings of patients with CCD involving multiple regions of the body should draw clinicians' attention to the need for multidisciplinary management of these patients.


Asunto(s)
Displasia Cleidocraneal/diagnóstico , Cráneo , Adenoidectomía , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Mutación , Apnea Obstructiva del Sueño , Tonsilectomía , Adulto Joven
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