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Mutation analysis of two pedigrees with suspected oculocutaneous albinism / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 212-216, 2019.
Article in Chinese | WPRIM | ID: wpr-775766
ABSTRACT
OBJECTIVE@#To analyze the clinical presentation and gene of 2 pedigrees with suspected oculocutaneous albinism(OCA), and provide basis for clinical classification, genetic counseling and prenatal diagnosis.@*METHODS@#Variants were identified using next-generation sequencing(NGS) and confirmed by Sanger sequencing in 2 pedigrees with suspected OCA. The pathogenicity of the variants was analyzed according to the American College of Medical Genetics and Genomics (ACMG) standard.@*RESULTS@#Two compound heterozygous mutations of TYR and OCA2 genes were identified respectively in 2 pedigrees with suspected OCA. The mutation of c.819+3insATATGCC in TYR and the mutation of c.1870G>C in OCA2 are first reported in this study. The pathogenicity analysis shows that two novel mutations are likely pathogenic by combination of prediction of SIFT, Polyphen-2 and Human Splicing Finder.@*CONCLUSION@#The findings of this study expand the mutational spectrum of OCA. Compound heterozygous mutations in the TYR and OCA2 gene may be responsible for clinical manifestations of 2 pedigrees with suspected OCA.
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Pedigree / Membrane Transport Proteins / DNA Mutational Analysis / Albinism, Oculocutaneous / Monophenol Monooxygenase / High-Throughput Nucleotide Sequencing / Mutation Type of study: Prognostic study Limits: Female / Humans / Pregnancy Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2019 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Pedigree / Membrane Transport Proteins / DNA Mutational Analysis / Albinism, Oculocutaneous / Monophenol Monooxygenase / High-Throughput Nucleotide Sequencing / Mutation Type of study: Prognostic study Limits: Female / Humans / Pregnancy Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2019 Type: Article