Comprehensive Analysis of Spectral Distribution of a large cohort of Chinese Patients with Non-syndromic Oculocutaneous Albinism Facilitates Genetic Diagnosis.

This study shows that OCA1 is the most common (75/114) and OCA2 ranks the second most common (16/114) in Chinese. 99 patients of our cohort were caused by variants of all the known nsOCA genes. Cutaneous phenotypes of OCA1, OCA2, OCA4 patients were shown in this study. The second OCA6 case in China was identified here. These data expand the spectrum of OCA variants as well phenotype, and facilitate clinical implement of Chinese OCA patients. This article is protected by copyright. All rights reserved. PMID: 31077556 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/31077556?dopt=Abstract

Source: Pigment Cell and Melanoma Research - May 10, 2019 Category: Cytology Authors: Zhong Z, Gu L, Zheng X, Ma N, Wu Z, Duan J, Zhang J, Chen J Tags: Pigment Cell Melanoma Res Source Type: research