X染色体连锁隐性遗传先天性眼球震颤家系的临床表型分析

Clinical phenotypes of X-linked congenital nystagmus family

目的分析一个中国人X染色体连锁隐性遗传先天性眼球震颤家系的临床表型特征及致病基因。方法对2013年12月来本院就诊的海南省三亚一个先天性眼球震颤家系内的13例成员(6例患者,7例正常人)进行研究。所有成员均进行眼科详细检查,包括视力、裂隙灯检查眼前节、眼位、眼底检查等,并对其临床资料进行分析。对先证者及正常人进行候选基因FRMD7及GPR143的外显子测序。结果此家系的6例患者均为男性,发病年龄均为出生后6个月内。所有患者都为水平冲动型眼球震颤。仅1例眼底有大片脉络膜缺损。所有患者均有头震颤、虹膜脱色素、黄斑发育异常以及较差的矫正视力。结论本研究的X染色体连锁隐性遗传家系的致病基因为GPR143基因,致病突变c.360+5G>T。

Objective To analyze the clinical features of genotypes in a family with congenital nystagmus and determine the diseasecausing mutation. Methods Thirteen members in a family（6 patients and 7 normal subjects） in Sanya City, Hainan Province, China, who admitted to our hospital were recruited in this study in December 2013. A detailed clinical ophthalmic examination was performed for all patients. They underwent visual acuity test, anterior segment slit lamp examination, eye position fundus examination. Their clinical phenotype data were analyzed. Mutations in FRMD7 and GPE143 were determined by PCR-based DNA sequencing assays and multiplex PCR assays for deletions. Results Six patients in the family were males with the onset at the age of 0-6 months. The type of nystagmus in the family was horizontal jerk nystagmus. Only one patient had choroid coloboma. All patients had head oscillation, iris depigmentation, foveal hypoplasia and reduced visual acuity. Conclusion The c.360＋5GT mutation of GPR143 molecular can cause X-linked congenital idiopathic nystagmus.