Mutation analysis of two pedigrees with suspected oculocutaneous albinism.
10.3760/cma.j.issn.1003-9406.2019.03.005
- Author:
Haiyun YE
1
;
Xiaoping LAN
;
Tong QIAO
;
Wuhen XU
;
Xiaojun TANG
;
Yongchen YANG
;
Hong ZHANG
Author Information
1. Department of Ophthalmology Shanghai Children's Hospital, Children's Hospital of Shanghai Jiao Tong University, Shanghai, 200062, China. xplan74@163.com.
- Publication Type:Journal Article
- MeSH:
Albinism, Oculocutaneous;
DNA Mutational Analysis;
Female;
High-Throughput Nucleotide Sequencing;
Humans;
Membrane Transport Proteins;
Monophenol Monooxygenase;
Mutation;
Pedigree;
Pregnancy
- From:
Chinese Journal of Medical Genetics
2019;36(3):212-216
- CountryChina
- Language:Chinese
-
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.
