[开放获取]    1例眼皮肤白化病Ⅳ型SLC45A2基因的新突变

doi:10.35541/cjd.20230139

中华皮肤科杂志 ›› 2023, e20230139.doi: 10.35541/cjd.20230139

[开放获取] 1例眼皮肤白化病Ⅳ型SLC45A2基因的新突变

李静¹ 张李钰² 车凤玉² 黄博³ 陈曦¹ 郑延静¹ 刘佳姝¹ 丁欣强¹

¹西安市儿童医院皮肤科，西安 710003；²西安市儿童医院陕西省儿科疾病研究所，西安 710003；³西安市儿童医院检验科，西安 710003

收稿日期:2023-03-10 修回日期:2023-08-10 发布日期:2023-11-21
通讯作者: 丁欣强 E-mail:499161644@qq.com
基金资助:
西安市卫生健康委员会科研项目（2021qn05）

A novel mutation of the SLC45A2 gene in a case of oculocutaneous albinism type Ⅳ

Li Jing¹, Zhang Liyu², Che Fengyu², Huang Bo³, Chen Xi¹, Zheng Yanjing¹, Liu Jiashu¹, Ding Xinqiang¹

¹Department of Dermatology, Xi′an Children′s Hospital, Xi′an 710003, China; ²Shaanxi Research Institute for Pediatric Diseases, Xi′an Children′s Hospital, Xi′an 710003, China; ³Department of Clinical Laboratory, Xi′an Children′s Hospital, Xi′an 710003, China

Received:2023-03-10 Revised:2023-08-10 Published:2023-11-21
Contact: Ding Xinqiang E-mail:499161644@qq.com
Supported by:
Youth Cultivation Project of Xi′an Health Commission（2021qn05）

摘要/Abstract

摘要： 患儿，女，56 d龄，足月顺产，出生体重3.1 kg。出生时头发、眉毛及全身毛发呈金棕色，生长过程中，头发逐渐变为浅金色，全身皮肤粉红色，眼球淡灰色，畏光，斜视伴眼球震颤（图1）……

李静张李钰车凤玉黄博陈曦郑延静刘佳姝丁欣强. [开放获取] 1例眼皮肤白化病Ⅳ型SLC45A2基因的新突变[J]. 中华皮肤科杂志, 2023,e20230139. doi:10.35541/cjd.20230139

Li Jing, Zhang Liyu, Che Fengyu, Huang Bo, Chen Xi, Zheng Yanjing, Liu Jiashu, Ding Xinqiang. A novel mutation of the SLC45A2 gene in a case of oculocutaneous albinism type Ⅳ[J]. Chinese Journal of Dermatology,2023,e20230139. doi:10.35541/cjd.20230139

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［2］	Wei AH, Yang XM, Lian S, et al. Genetic analyses of Chinese patients with digenic oculocutaneous albinism［J］. Chin Med J （Engl）, 2013,126（2）:226⁃230. doi: 10.3760/cma.j.issn.0366⁃6999.20121104.
［3］	Zhong Z, Gu L, Zheng X, et al. Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non⁃syndromic oculocutaneous albinism facilitates genetic diagnosis［J］. Pigment Cell Melanoma Res, 2019,32（5）:672⁃686. doi: 10. 1111/pcmr.12790.
［4］	Xue JJ, Xue JF, Xue HQ, et al. Identification of a novel SLC45A2 mutation in albinism by targeted next⁃generation sequencing［J］. Genet Mol Res, 2016,15（3）:gmr.15038743. doi: 10.4238/gmr. 15038743.

[开放获取] 1例眼皮肤白化病Ⅳ型SLC45A2基因的新突变

A novel mutation of the SLC45A2 gene in a case of oculocutaneous albinism type Ⅳ

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