Lyu Yuqiang, Huang Jing, Zhang Kaihui, Liu Guohua, Gao Min, Gai Zhongtao, Liu Yi
Jinan Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Feb 10;34(1):73-77. doi: 10.3760/cma.j.issn.1003-9406.2017.01.017.
To explore the clinical and genetic features of a Chinese boy with oculocutaneous albinism.
The clinical features of the patient were analyzed. The DNA of the patient and his parents was extracted and sequenced by next generation exome capture sequencing. The nature and impact of detected mutation were predicted and validated.
The child has displayed strabismus, poor vision, nystagmus and brown hair. DNA sequencing showed that the patient has carried compound heterozygous mutations of the TYRP1 gene, namely c.1214C>A (p.T405N) and c.1333dupG, which were inherited from his mother and father, respectively. Neither mutation was reported previously.
The child has suffered from oculocutaneous albinism type Ⅲ caused by mutations of the TYRP1 gene.
探讨一名患有眼皮肤白化病的中国男孩的临床及基因特征。
分析患者的临床特征。提取患者及其父母的DNA，采用新一代外显子捕获测序技术进行测序。对检测到的突变的性质和影响进行预测及验证。
该患儿出现斜视、视力差、眼球震颤及棕色头发。DNA测序显示，患者携带TYRP1基因的复合杂合突变，即c.1214C>A（p.T405N）和c.1333dupG，分别遗传自其母亲和父亲。此前均未见这两种突变的报道。
该患儿患有由TYRP1基因突变导致的Ⅲ型眼皮肤白化病。
