Oculocutaneous albinism (OCA) is a rare and heterogeneous disorder characterized by hypopigmentation of the skin, hair and eyes. Thirty OCA type 6 (OCA6) patients with 24 mutations in SLC24A5 have been reported across various populations; however, only one patient has been identified in a Chinese population. This study identifies two novel SLC24A5 frame-shift variants in two unrelated Chinese patients and both are predicted to be pathogenic by American College of Medical Genetics guidelines. The genotypes and phenotypes of all three Chinese OCA6 patients are unique compared with those identified in other populations. All of the mutations identified to date in Chinese OCA6 patients are predicted to be non-functional, a finding that is useful in guiding genetic diagnosis and counseling for OCA6 in China.
基金：
National Natural Science Foundation of ChinaNational Natural Science Foundation of China; High-level Professional Talents of Beijing Healthcare System
第一作者机构：[1]Capital Med Univ, Beijing Tongren Hosp, Dept Dermatol, 1 Dongjiaominxiang St, Beijing, Peoples R China
通讯作者：
通讯机构：[1]Capital Med Univ, Beijing Tongren Hosp, Dept Dermatol, 1 Dongjiaominxiang St, Beijing, Peoples R China[4]Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Lab Genet Birth Defects,Beijing Pediat Res Inst, Beijing, Peoples R China[5]Beijing Childrens Hosp, Shunyi Women & Childrens Hosp, Beijing, Peoples R China[*1]Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, No. 1, Dongjiaominxiang Street, Dongcheng District, Beijing 100730, China
推荐引用方式(GB/T 7714)：
Zhang Yunlan,Zhang Yingzi,Liu Teng,et al.Identification of two Chinese oculocutaneous albinism type 6 patients and mutation updates of the SLC24A5 gene[J].JOURNAL OF DERMATOLOGY.2019,46(11):1027-1030.doi:10.1111/1346-8138.15065.
APA：
Zhang, Yunlan,Zhang, Yingzi,Liu, Teng,Bai, Dayong,Yang, Xiumin...&Wei, Aihua.(2019).Identification of two Chinese oculocutaneous albinism type 6 patients and mutation updates of the SLC24A5 gene.JOURNAL OF DERMATOLOGY,46,(11)
MLA：
Zhang, Yunlan,et al."Identification of two Chinese oculocutaneous albinism type 6 patients and mutation updates of the SLC24A5 gene".JOURNAL OF DERMATOLOGY 46..11(2019):1027-1030
