Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1

Lu,Qian; Yuan,Lamei; Xu,Hongbo; Huang,Xiangjun; Yang,Zhijian; Yi,Junhui; Ni,Bin; Chen,Yong; Deng,Hao

doi:10.3892/mmr.2017.6137

Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1

Authors:
- Qian Lu
- Lamei Yuan
- Hongbo Xu
- Xiangjun Huang
- Zhijian Yang
- Junhui Yi
- Bin Ni
- Yong Chen
- Hao Deng
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Affiliations: Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, Hunan 410013, P.R. China, Department of Ophthalmology, The Third Xiangya Hospital, Central South University, Changsha, Hunan 410013, P.R. China, Key Laboratory of Genetics and Birth Health of Hunan Province, Family Planning Institute of Hunan Province, Changsha, Hunan 410078, P.R. China
Published online on: January 23, 2017 https://doi.org/10.3892/mmr.2017.6137
Pages: 1426-1430

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Abstract

Oculocutaneous albinism (OCA) is a group of heterogeneous and autosomal recessive disorders characterized by a reduction or complete loss of melanin biosynthesis in melanocytes. OCA type 1 (OCA1) is the most severe and common form of OCA, and is caused by mutations in the tyrosinase gene (TYR). The present study aimed to identify the genetic cause of OCA1 in a four‑generation consanguineous Chinese Han family. Complete physical examinations were performed and blood samples were collected from five members of the family and 100 unrelated healthy controls. Exome sequencing was conducted in the proband, followed by verification in other family members, using Sanger sequencing. Patients in the family presented with typical OCA1 features, including hypopigmentation of the skin and hair, and distinctive ocular changes. A homozygous missense variant, c.896G>A (p.R299H), in the TYR gene was identified in two patients, which co‑segregated with disease in the family. This variant was not present in the 100 healthy controls. These results expand the number of mutations identified to be responsible for OCA1 in the Chinese Han population, and may have implications for genetic counseling and clinical management of the disease.

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