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2.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(9): 866-869, 2019 Sep 10.
Artigo em Chinês | MEDLINE | ID: mdl-31515777

RESUMO

OBJECTIVE: To determine the CGG repeat number and methylation status of FMR1 gene for fetuses whose mothers have carried a FMR1 mutation. METHODS: For 30 pregnant women, the fetal CGG repeat number was determined with a GC-rich PCR system by using chorionic villus, amniotic fluid or umbilical blood samples. The methylation status of the FMR1 gene was confirmed with Southern blotting. RESULTS: In total 30 prenatal diagnoses were performed for 29 carriers of FMR1 gene mutations and 1 with FMR1 gene deletion mosaicism. Three fetuses were found to carry premutations, 9 were with full mutations and 1 with mosaicism of premutation and full mutations. Eighteen fetuses were normal. CONCLUSION: Considering the genetic complexity of Fragile X syndrome (FXS), single method may not suffice accurate determination of their genetic status. The pitfalls and technical limitations of protocols requires adoption of personalized strategy for its prenatal diagnosis.


Assuntos
Proteína do X Frágil de Retardo Mental/genética , Síndrome do Cromossomo X Frágil/diagnóstico , Diagnóstico Pré-Natal , Feminino , Heterozigoto , Humanos , Mutação , Gravidez
3.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(9): 882-885, 2019 Sep 10.
Artigo em Chinês | MEDLINE | ID: mdl-31515781

RESUMO

OBJECTIVE: To screen for potential variants of GCDH gene in 3 patients clinically diagnosed as glutaric aciduria type Ⅰ. METHODS: GCDH gene variants was detected by Sanger sequencing among the three children and their family members. RESULTS: Sanger sequencing showed that patient 1 carried compound heterozygosity variants of c.532G>A (p.Gly178Arg) and c.655G>A (p.Ala219Thr) of the GCDH gene, while his father and mother respectively carried heterozygous c.532G>A(p.Gly178Arg) and c.655G>A (p.Ala219Thr) variants. Patient 2 carried c.532G>A (p.Gly178Arg) and a novel c.1060G>T (p.Gly354Cys) compound heterozygous variant, while his father and mother respectively carried heterozygous c.532G>A (p.Gly178Arg) and c.1060G>T (p.Gly354Cys) variant. Patient 3 carried homozygous c.532G>A (p.Gly178Arg) variant of the GCDH gene, for which both of his parents were heterozygous carriers. CONCLUSION: The GCDH gene variant probably underlie the glutaric aciduria type Ⅰ among the 3 patients. Identifcation of the novel variant has enriched the spectrum of GCDH gene variants.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/genética , Encefalopatias Metabólicas/genética , Glutaril-CoA Desidrogenase/deficiência , Feminino , Glutaril-CoA Desidrogenase/genética , Heterozigoto , Humanos , Masculino
4.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(9): 893-896, 2019 Sep 10.
Artigo em Chinês | MEDLINE | ID: mdl-31515784

RESUMO

OBJECTIVE: To analyze genetic variant in a pedigree affected with congenital high myopia. METHODS: Whole exome sequencing (WES) was carried out for the proband. Suspected variation was verified with Sanger sequencing. The pedigree was also subjected to co-segregation analysis. RESULTS: WES has identified a novel splice site heterozygous variant (c.2556+1G>A) in the COL11A1 gene in the proband. Co-segregation analysis of the pedigree showed that the affected mother and two daughters of the proband have carried the same variant(c.2556+1G>A), while his unaffected father and sister did not. Based on the ACMG Standards and Guidelines for the Interpretation of Sequence Variants, the variant was classified as "likely pathogenic" (PVS1+PM2). CONCLUSION: A novel splice variant (c.2556+1G>A) of the COL11A1 gene has been identified in a pedigree affected with congenital high myopia, which probably underlies the disease.


Assuntos
Colágeno Tipo XI/genética , Miopia/genética , Testes Genéticos , Heterozigoto , Humanos , Linhagem , Sequenciamento Completo do Exoma
5.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(9): 910-913, 2019 Sep 10.
Artigo em Chinês | MEDLINE | ID: mdl-31515788

RESUMO

OBJECTIVE: To explore the genetic basis for an infant featuring developmental delay, hand deformity and hypertonia of extremities. METHODS: Clinical data and peripheral blood samples of the proband and her parents were collected. Following DNA extraction, potential mutations were screened on an Ion PGM platform using a gene panel. Suspected mutation was verified by PCR and Sanger sequencing. RESULTS: A novel heterozygous nonsense mutation, c.2521C>T(p.R841X), was identified in the NIPBL gene. The mutation may cause premature termination of translation of the adhesion protein loading factor at 841st amino acids. The same mutation was not found in her parents and 931 healthy controls, and was absent from public databases including ExAC and 1000G. Bioinformatic analysis suggested the mutation to be disease causing. CONCLUSION: The c.2521C>T (p.R841X) mutation of the NIPBL gene probably underlies the Cornelia De Lange syndrome in the infant. Prenatal diagnosis may be provided to this family upon their subsequent pregnancy.


Assuntos
Síndrome de Lange/genética , Diagnóstico Pré-Natal , Proteínas/genética , Síndrome de Lange/diagnóstico , Feminino , Heterozigoto , Humanos , Lactente , Mutação , Gravidez
6.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(9): 918-921, 2019 Sep 10.
Artigo em Chinês | MEDLINE | ID: mdl-31515790

RESUMO

OBJECTIVE: To explore phenotypic and mutational characteristics of a pedigree affected with autosomal dominant Charcot-Marie-Tooth disease (CMT) and nephropathy. METHODS: Clinical data of the proband and his family members was collected. Electrophysiology, renal biopsy and next-generation sequencing were carried out for the proband. RESULTS: The proband presented with distal lower limb weakness and proteinuria in childhood. His mother and brother had similar symptoms. Electrophysiological test of the proband revealed demyelination and axonal changes in both motor and sensory nerves. Renal biopsy suggested focal segmental glomerulosclerosis. Genetic testing revealed a heterozygous c.341G>A (p.G114D) mutation in exon 2 of the INF2 gene. CONCLUSION: The phenotypic feature of the pedigree is autosomal dominant intermediate CMT and focal segmental glomerulosclerosis, which may be attributed to the c.341G>A mutation of the INF2 gene.


Assuntos
Doença de Charcot-Marie-Tooth/genética , Glomerulosclerose Segmentar e Focal/genética , Proteínas dos Microfilamentos/genética , Doença de Charcot-Marie-Tooth/complicações , Criança , Feminino , Glomerulosclerose Segmentar e Focal/complicações , Heterozigoto , Humanos , Masculino , Mutação , Linhagem
7.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(9): 930-934, 2019 Sep 10.
Artigo em Chinês | MEDLINE | ID: mdl-31515793

RESUMO

OBJECTIVE: To detect potential mutations of HEXB gene in an infant with Sandhoff disease (SD). METHODS: Genomic DNA was extracted from peripheral blood sample of the infant. All coding exons (exons 1 to 14) and splicing sites of the HEXB gene were subjected to PCR amplification and direct sequencing.PubMed Protein BLAST system was employed to analyze cross-species conservation of the mutant amino acid. PubMed BLAST CD-search was performed to identify functional domains destroyed by thecandidate mutations. Impact of the mutations was analyzed with software including PolyPhen-2, Mutation Taster and SIFT. Whole-exome sequencing was carried out to identify additional mutations. RESULTS: The infant was found to carry compound heterozygous mutations c.1652G>A(p.Cys551Tyr) and c.1389C>G (p.Tyr463*) of the HEXB gene. The c.1389C>G (p.Tyr463*) mutation may lead to destruction of two functional domains in ß subunit of the Hex protein. The c.1652G>A(p.Cys551Tyr) mutation, unreported previously,was predicted to be probably damaging by Bioinformatic analysis. CONCLUSION: Compound heterozygous mutations c.1652G>A(p.Cys551Tyr) and c.1389C>G (p.Tyr463*) in the HEXB gene probably underlie the disease in this patient.


Assuntos
Doença de Sandhoff/genética , Cadeia beta da beta-Hexosaminidase/genética , Análise Mutacional de DNA , Éxons , Heterozigoto , Humanos , Lactente , Mutação , Reação em Cadeia da Polimerase
8.
Pestic Biochem Physiol ; 159: 9-16, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31400789

RESUMO

An L1024F substitution in the para gene, which encodes a subunit of the voltage-gated sodium channel, has been implicated in pyrethroid resistance in a mite pest, Halotydeus destructor, which attacks rape and other grain crops. A high-resolution melt (HRM) genotyping assay was developed for testing the relative pyrethroid susceptibility of different para genotypes and for high-throughput field screening of resistant alleles. The L1024F mutation was found to be incompletely recessive in phenotypic laboratory bioassays with the pyrethroid pesticide, bifenthrin. While the resistance ratio of heterozygotes (RS) to susceptible homozygotes (SS) was <6 in 24 h bioassays, the resistant homozygotes (RR) (with a resistance ratio > 200,000) survived the recommended field rate of bifenthrin (100 mgL-1). HRM genotyping of mites from field populations across Australia indicated the presence of resistant alleles in Western Australia and South Australia, but not in Victoria and New South Wales. The assay developed will be useful for routine screening of pyrethroid resistance, and the dominance relationships established here point to useful resistance management strategies involving the maintenance of reservoirs of susceptible mites to dilute resistant homozygotes in a population.


Assuntos
Inseticidas/farmacologia , Ácaros/efeitos dos fármacos , Piretrinas/farmacologia , Animais , Genótipo , Heterozigoto , Homozigoto , Resistência a Inseticidas/genética , Programas de Rastreamento , Ácaros/genética
9.
Zhongguo Dang Dai Er Ke Za Zhi ; 21(8): 824-829, 2019 Aug.
Artigo em Chinês | MEDLINE | ID: mdl-31416510

RESUMO

OBJECTIVE: To construct a W203X-mutant mouse model of cblC type methylmalonic acidemia based on the CRISPR/Cas9 technology. METHODS: At first, BLAST was used to compare the conservative nature of the cblC gene and protein sequences in humans and mice, and then, the CRISPR/Cas9 technology was used for microinjection of mouse fertilized eggs to obtain heterozygous F1 mice. Hybridization was performed for these mice to obtain homozygous W203X-mutant mice. The blood level of the metabolite propionyl carnitine (C3) was measured for homozygous mutant mice, heterozygous littermates, and wild-type mice. RESULTS: The gene and protein sequences of MMACHC, the pathogenic gene for cblC type methylmalonic acidemia, were highly conserved in humans and mice. The homozygous W203X-mutant mice were successfully obtained by the CRISPR/Cas9 technology, and there was a significant increase in C3 in these mice at 24 hours after birth (P<0.001). CONCLUSIONS: A W203X-mutant mouse model of cblC type methylmalonic acidemia is successfully constructed by the CRISPR/Cas9 technology.


Assuntos
Sistemas CRISPR-Cas , Erros Inatos do Metabolismo dos Aminoácidos , Animais , Proteínas de Transporte , Heterozigoto , Camundongos , Mutação
10.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 27(4): 1227-1231, 2019 Aug.
Artigo em Chinês | MEDLINE | ID: mdl-31418384

RESUMO

OBJECTIVE: To investigate the genetic carrier rate of thalassemia and its gene mutation types as well as the distribution characteristics among the people in Lingshui Li autonomous county of Hainan province, so as to provide the basis for making the prevention programs of thalassemia in administrative departments. METHODS: Samples were collected from couples undergoing premarital and pregestational screenings, in which the positive ones in preliminary screening were further tested by genetic diagnoses and the genotypes were analyzed. RESULTS: The rate of thalassemia gene carriers was 19.41% (274/1412) of the couples of childbearing age in Lingshui Li autonomous County of Hainan Province. In these carriers,α-thalassemia accounted for 83.21%(228/274), ß-thalassemia for 8.03%(22/274), and both α-and ß-thalassemia gene accounted for 8.76% (28/274). CONCLUSION: The carrying rate of thalassemia gene in population Lingshui Li autonomous county of Hainan province is high, and its distribution has geographical characteristics,the major type is α-thalassemia. Blood screening and genetic diagnosis of thalassemia should be strengthened, and corresponding measures should be taken to reduce its gene frequency.


Assuntos
Talassemia alfa , Talassemia beta , China , Testes Genéticos , Genótipo , Heterozigoto , Humanos
12.
Artigo em Chinês | MEDLINE | ID: mdl-31446693

RESUMO

Summary Noonan syndrome with multiple lentigines(NSML) is a disorder with syndromic hearing loss. Abnormalities of other systems in NSML have received increasing attention, but hearing loss is rarely concerned. And due to the incomplete phenotype, some patients with NSML maybe missed or maybe confused with other syndromic deafness such as Waardenburg syndrome. Our study will familiarize more otolaryngologists with Leopard syndrome. A 5-year-old boy with bilateral sensorineural hearing loss and numerous symmetrically distributed dark brown macules that had good effect of cochlear implantation was collected in this study. And his father had bilateral sensorineural hearing loss and numerous symmetrically distributed dark brown macules. Waardenburg syndrome was initially diagnosed by clinical phenotype and its molecular etiology was confirmed by gene diagnosis. Waardenburg syndrome-related deafness genes and 131 known deafness genes were not identified by second-generation sequencing. Whole-exon sequencing was performed for 4 individuals in the family and the results were confirmed by Sanger sequencing. This study confirmed the diagnosis by identifying a disease-causing mutation in the PTPN11 gene, which was a heterozygous missense mutation at p. Tyr279Cys(c. 836A>G). The mutation co-segregated with hearing loss in the family. Our results demonstrated that hearing loss in this family was caused by heterozygous mutations in PTPN11. These cases will familiarize more otolaryngologists with NSML, and they emphasize the importance of considering NSML as a possible cause of hearing problems.


Assuntos
Surdez/genética , Síndrome de Noonan/genética , Proteína Tirosina Fosfatase não Receptora Tipo 11/genética , Pré-Escolar , Heterozigoto , Humanos , Masculino , Mutação , Síndrome de Waardenburg
13.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(8): 761-764, 2019 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-31400122

RESUMO

OBJECTIVE: To explore the hematological phenotype and genotype of hemoglobin Q-Thailand in Fujian area. METHODS: Genomic DNA was extracted from peripheral venous blood samples of patients. Suspected samples were screened by hematological parameters analysis and verified with DNA sequencing. RESULTS: In 35 patients suspected with Hb Q-Thailand, 20 were confirmed, which included one case compounded with heterozygous ß CD41-42 mutation and one compounded with Hb New York. CONCLUSION: Analysis of hematological phenotype and genotype of Hb Q-Thailand can faciliate genetic counseling for patients from Fujian area.


Assuntos
Hemoglobinas Anormais/genética , China , Genótipo , Heterozigoto , Humanos , Mutação , Fenótipo
14.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(8): 785-788, 2019 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-31400128

RESUMO

OBJECTIVE: To carry out genetic diagnosis for a pedigree affected with cutis laxa. METHODS: Genomic DNA was extracted from peripheral blood samples from members of the pedigree and 50 unrelated healthy controls. Potential mutation was screened by next-generation sequencing and verified by Sanger sequencing. RESULTS: A heterozygous c.1985delG mutation was identified in the ELN gene among all patients from this pedigree. The same mutation was not found among unaffected family members and 50 healthy controls. CONCLUSION: The genetic etiology for the pedigree has been elucidated, which has enabled genetic counseling and guidance for reproduction.


Assuntos
Cútis Laxa/genética , Elastina/genética , Mutação , Heterozigoto , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Linhagem
15.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(8): 794-797, 2019 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-31400130

RESUMO

OBJECTIVE: To explore the molecular basis for a pedigree affected with Darier-White disease. METHODS: Genomic DNA was isolated from 3 patients and 1 unaffected member from the pedigree, as well as 80 healthy controls. Targeted sequence capture and next-generation sequencing were used to screen mutations of skin disease-related genes. Candidate mutations were verified by Sanger sequencing, and co-segregation analysis was carried out to confirm the pathogenicity of mutation. Conservation analysis and protein structure and function were also predicted with Bioinformatic tools. RESULTS: A heterozygous mutation c.2246G>T (p.G749V) was identified in exon 15 of ATP2A2 gene in all 3 patients from the pedigree, but not in the unaffected member or 80 healthy controls. The corresponding amino acid was highly conserved, and mutation of which can lead to structural and functional changes of the protein. CONCLUSION: The c.2246G>T missense mutation of the ATP2A2 gene probably underlies the Darier-White disease in this pedigree by causing damages to the structure and function of sarcoplasmic/endoplasmic reticulum calcium ATPase 2 (SERCA2).


Assuntos
Doença de Darier/genética , ATPases Transportadoras de Cálcio do Retículo Sarcoplasmático/genética , Heterozigoto , Humanos , Mutação de Sentido Incorreto , Linhagem
16.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(8): 801-804, 2019 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-31400132

RESUMO

OBJECTIVE: To analyze the phenotype and genetic mutations in a pedigree affected with factor Ⅺ (FⅪ) deficiency. METHODS: Activated partial thromboplastin time (APTT), FⅪ activity (FⅪ:C) and FⅪ antigen (FⅪ:Ag) were determined for the proband and his family members. All exons and exon-intron boundaries of the FⅪ gene of the proband were analyzed by direct sequencing. Suspected mutation was verified in his family members. RESULTS: The proband had APTT of 82.4 s, FⅪ:C of 0.8%, and FⅪ:Ag of <1%. DNA sequencing showed that he has carried c.1033A>T (Lys327X) mutation in exon 10 and c.1325delT (Leu424CysfsX8) mutation in exon 12 of the FⅪ gene. His elder sister, son, daughter, two granddaughters and one grandson were heterozygous carriers of the c.1033A>T mutation, while his older sister and younger brother were heteozygous carriers of the c.1325delT mutation. Analysis using Mutation Taster software showed that both p.Lys327X and p.Leu424CysfsX8 may affect the function of protein and lead to the corresponding disease. CONCLUSION: The novel mutations of Lys327X and Leu424CysfsX8 of the the FⅪ gene probably underlie the pathogenesis of congenital coagulation factor Ⅺ deficiency in this pedigree.


Assuntos
Deficiência do Fator XI/genética , Fator XI/genética , Éxons , Feminino , Heterozigoto , Humanos , Masculino , Mutação , Linhagem
17.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(8): 805-808, 2019 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-31400133

RESUMO

OBJECTIVE: To explore the molecular pathogenesis for a pedigree affected with hypocalcemia secondary to hypomagnesemia. METHODS: Sanger sequencing was used to detect potential variant of the TRPM6 gene in the patient and their parents. RESULTS: The results showed that the patient has carried novel homozygous c.3311C>T (p.Pro1104Leu) variant of the TRMP6 gene, for which both of his parents were heterozygous carriers. Analysis of protein functions using software predicted high risk of pathogenicity. CONCLUSION: The homozygous c.3311C>T (p.Pro1104Leu) variant of the TRPM6 gene probably underlies the disease in this patient.


Assuntos
Hipocalcemia/genética , Deficiência de Magnésio/genética , Canais de Cátion TRPM/genética , Heterozigoto , Humanos , Magnésio , Masculino , Linhagem
18.
Gene ; 715: 143970, 2019 Oct 05.
Artigo em Inglês | MEDLINE | ID: mdl-31330235

RESUMO

BACKGROUND: Bicuspid aortic valve (BAV) formation is genetically determined, with reduced penetrance and variable expressivity. NOTCH1 is a proven candidate gene and its mutations have been found in familial and sporadic cases of BAV. METHODS: 66 BAV patients from the GISSI VAR study were genotyped for the NOTCH1 gene. RESULTS: We identified 63 variants, in heterozygous and homozygous states. Fifty-two are common polymorphisms present in almost all patients. Eleven variants are new and never yet reported: two are non-synonymous substitutions, Gly540Asp in exon 10 and Glu851Gln in exon 16; one is in the 3'UTR region and seven in introns, one corresponds to a T allele insertion in intron 27. We selected four statistically noteworthy and seven new variants identified in six BAV patients and correlated them with clinical and demographic variables and with imaging and histological parameters. Preliminary data show that four were BAV patients with isolated stenosis in patients over 60 aged. These variants may correlate with a later need for surgery for the presence of stenosis and not aortic valve regurgitation or ascending aortic aneurysm. CONCLUSIONS: Completing the genotyping of 62 BAV patients we found 11 new variants in the NOTCH1 gene never yet reported. These findings confirm that the identification of new, clinically remarkable biomarkers for BAV requires a deeper genetic understanding of the NOTCH1 gene variants, which could be targeted by future diagnostic and therapeutic strategies.


Assuntos
Estenose da Valva Aórtica/genética , Valva Aórtica/anormalidades , Doenças das Valvas Cardíacas , Mutação de Sentido Incorreto , Penetrância , Receptor Notch1/genética , Adulto , Alelos , Substituição de Aminoácidos , Éxons , Feminino , Heterozigoto , Homozigoto , Humanos , Íntrons , Itália , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Análise de Sequência de DNA
19.
Gene ; 714: 143990, 2019 Sep 25.
Artigo em Inglês | MEDLINE | ID: mdl-31326550

RESUMO

BACKGROUND: Progressive cardiac conduction defect (PCCD), also known as Lenegre-Lev disease, is one of the most common heart conduction abnormalities. Previous studies have screened for known mutation sites that cause heart block in a 68-person family with a history of PCCD, revealed no mutations. OBJECTIVE: To screen pathogenic genes of the PCCD family and to study the function of the gene mutations related to heart block diseases. METHODS: Whole exome sequencing (WES) was performed on two PCCD patients and one non-PCCD family member to find the related pathogenic gene. After family co-segregation and preliminary functional analysis, we identified the mutant gene CLCA2. To study the function of this gene, we constructed mutant-gene mice using CRISPR-Cas9 technology, and electrocardiogram monitoring was performed after genotype verification. RESULTS: The CLCA2 c.G1725T mutation was identified and co-segregated with the phenotype. The analysis showed that the CLCA2 c.G1725T mutation is harmful and mainly affects protein glycosylation. Immunofluorescence staining revealed that CLCA2 was highly expressed in the sinoatrial node (SAN) tissues. Electrocardiogram monitoring of the mice revealed that CLCA2 point mutations induced mild conduction block and ectopic pacemakers. CONCLUSION: Our findings indicate that a novel heterozygous missense mutation c.G1725T of the CLCA2 gene may be associated with heart block disease and the mutation in this gene may lead to sinus node lesions and conduction blocking.


Assuntos
Canais de Cloreto/genética , Bloqueio Cardíaco/genética , Mutação de Sentido Incorreto/genética , Sequência de Aminoácidos , Animais , Eletrocardiografia/métodos , Feminino , Heterozigoto , Humanos , Masculino , Camundongos , Linhagem , Fenótipo , Mutação Puntual/genética , Nó Sinoatrial/patologia
20.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(7): 697-700, 2019 Jul 10.
Artigo em Chinês | MEDLINE | ID: mdl-31302914

RESUMO

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with congenital cataracts. METHODS: Clinical data and peripheral blood samples were collected for the pedigree. Following extraction of genomic DNA, whole exome sequencing was carried out to detect genetic variants. Candidate variants were verified by familial co-segregation analysis and Sanger sequencing. Bioinformatics analysis was carried out to predict the function of mutant genes. RESULTS: By comparing variants identified among affected and unaffected individuals, a heterozygous variant, c.110 G>C (p.R37P), was identified in exon 2 of the CRYGC gene among all patients, which also matched the criteria for potential disease-causing mutations. The result was confirmed by Sanger sequencing. CONCLUSION: The c.110G>C variant of the CRYGC gene probably underlay the congenital cataracts in this pedigree.


Assuntos
Catarata/congênito , Catarata/genética , gama-Cristalinas/genética , Grupo com Ancestrais do Continente Asiático , China , Heterozigoto , Humanos , Mutação , Linhagem
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