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Identification of two Chinese oculocutaneous albinism type 6 patients and mutation updates of the SLC24A5 gene

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收录情况： ◇ SCIE

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机构： [1]Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, [2]Department of Dermatology, Shunyi Women and Children’s Hospital of Beijing Children’s Hospital, [3]Department of Ophthalmology, Beijing Children’s Hospital, [4]Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, [5]Shunyi Women and Children’s Hospital of Beijing Children’s Hospital, Beijing, China

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关键词： genotyping mutation next-generation sequencing oculocutaneous albinism type 6 SLC24A5

摘要：

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. © 2019 Japanese Dermatological Association

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出版当年[2018]版：

大类 | 4 区医学

小类 | 3 区皮肤病学

最新[2023]版：

大类 | 3 区医学

小类 | 3 区皮肤病学

JCR分区：

出版当年[2017]版：

Q1 DERMATOLOGY

最新[2023]版：

Q2 DERMATOLOGY

影响因子： 2.9 最新[2023版] 3.4 最新五年平均 2.788 出版当年[2017版] 2.689 出版当年五年平均 2.094 出版前一年[2016版] 3.377 出版后一年[2018版]

第一作者：

第一作者机构： [1]Department of Dermatology, Beijing Tongren Hospital, Capital Medical University,

通讯作者：

通讯机构： [1]Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, [4]Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, [5]Shunyi Women and Children’s Hospital of Beijing Children’s Hospital, Beijing, China [*1]Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, No. 1, Dongjiaominxiang Street, Dongcheng District, Beijing 100730, China [*2]Beijing Children’s Hospital, Capital Medical University, No. 56, South Lishi Road, Xicheng District, Beijing 100045, China.

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Identification of two Chinese oculocutaneous albinism type 6 patients and mutation updates of the SLC24A5 gene

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