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1.
Hum Mutat ; 43(7): 900-918, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35344616

RESUMO

Robinow syndrome is characterized by a triad of craniofacial dysmorphisms, disproportionate-limb short stature, and genital hypoplasia. A significant degree of phenotypic variability seems to correlate with different genes/loci. Disturbances of the noncanonical WNT-pathway have been identified as the main cause of the syndrome. Biallelic variants in ROR2 cause an autosomal recessive form of the syndrome with distinctive skeletal findings. Twenty-two patients with a clinical diagnosis of autosomal recessive Robinow syndrome were screened for variants in ROR2 using multiple molecular approaches. We identified 25 putatively pathogenic ROR2 variants, 16 novel, including single nucleotide variants and exonic deletions. Detailed phenotypic analyses revealed that all subjects presented with a prominent forehead, hypertelorism, short nose, abnormality of the nasal tip, brachydactyly, mesomelic limb shortening, short stature, and genital hypoplasia in male patients. A total of 19 clinical features were present in more than 75% of the subjects, thus pointing to an overall uniformity of the phenotype. Disease-causing variants in ROR2, contribute to a clinically recognizable autosomal recessive trait phenotype with multiple skeletal defects. A comprehensive quantitative clinical evaluation of this cohort delineated the phenotypic spectrum of ROR2-related Robinow syndrome. The identification of exonic deletion variant alleles further supports the contention of a loss-of-function mechanism in the etiology of the syndrome.


Assuntos
Anormalidades Craniofaciais , Nanismo , Deformidades Congênitas dos Membros , Receptores Órfãos Semelhantes a Receptor Tirosina Quinase , Anormalidades Urogenitais , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/genética , Nanismo/diagnóstico , Nanismo/genética , Genes Recessivos , Humanos , Deformidades Congênitas dos Membros/diagnóstico , Deformidades Congênitas dos Membros/genética , Masculino , Fenótipo , Receptores Órfãos Semelhantes a Receptor Tirosina Quinase/genética , Anormalidades Urogenitais/diagnóstico , Anormalidades Urogenitais/genética
2.
Am J Med Genet A ; 188(5): 1635-1638, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35080105

RESUMO

We report an individual from Brazil with SHORT syndrome. The term SHORT stands for its common characteristics: short stature (S), hyperextensibility of joints, and/or inguinal hernia (H), ocular depression (O), Rieger anomaly (R), and teething delay (T). In addition to most of the clinical signs previously described in SHORT syndrome, the patient presented here also shows microcephaly and intellectual disability. Diagnosis was confirmed by exome sequencing revealing a novel heterozygous variant c.1456G>A (p.Ala486Thr) at PIK3R1. Human recombinant growth hormone (r-hGH) therapy was administered prior to diagnosis; however, the use of r-hGH may have had a role in anticipating and worsening the glucose metabolic profile in the patient, as previously described. This article contributes to providing a better understanding of the SHORT syndrome genotype and its correlation with the phenotype, by comparing with it other reported cases.


Assuntos
Doenças Metabólicas , Nefrocalcinose , Adulto , Brasil , Classe Ia de Fosfatidilinositol 3-Quinase/genética , Transtornos do Crescimento , Humanos , Hipercalcemia , Nefrocalcinose/diagnóstico , Nefrocalcinose/genética , Fenótipo
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