标题：GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus
作者：Han, Ruifang; Wang, Xiaojuan; Wang, Dongjie; Wang, Liming; Yuan, Zhongfang; Ying, Ming; Li, Ningdong
作者机构：[Han, Ruifang; Wang, Dongjie; Li, Ningdong] Tianjin Med Univ, Tianjin 300070, Peoples R China.; [Han, Ruifang; Wang, Dongjie; Wang, Liming; Ying, Mi 更多
通讯作者地址：[Li, ND]Tianjin Med Univ, Tianjin 300070, Peoples R China.
摘要：The ocular albinism type I (OA(1)) is clinically characterized by impaired visual acuity, nystagmus, iris hypopigmentation with translucency, albinotic fundus, and macular hypoplasia together with normally pigmented skin and hair. However, it is easily misdiagnosed as congenital idiopathic nystagmus in some Chinese patients with OA(1) caused by the G-protein coupled receptor 143 (GPR(143)) gene mutations. Mutations in the FERM domain-containing 7 (FRMD7) gene are responsible for the X-linked congenital idiopathic nystagmus. In this study, five Chinese families initially diagnosed as X-linked congenital nystagmus were recruited and patients underwent ophthalmological examinations. After direct sequencing of the FRMD7 and GPR(143) genes, five mutations in GPR(143) gene were detected in each of the five families, including a novel nonsense mutation of c.(333)G>A (p.W111X), two novel splicing mutations of c.(3)60+1G>C and c.6(59)-1G>A, a novel small deletion mutation of c.(43)_(5)odupGACGCAGC (p.L20PfsX25), and a previously reported missense mutation of c.703G>A (p.E235K). Optical coherence tomography (OCT) examination showed foveal hypoplasia in all the affected patients with nystagmus. Our study further expands the GPR(143) mutation spectrum and contributes to the study of GPR(143) molecular pathogenesis. Molecular diagnosis and optical coherence tomography (OCT) are two useful tools for differential diagnosis.