A novel frame-shift mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a Chinese family

作者：Du, Wei; Bu, Juan; Dong, Jiamei; Jia, Yanlei; Li, Jing; Liang, Chen; Si, Shancheng; Wang, Lejin^*

来源：Molecular Vision, 2011, 17(297-99): 2765-2768.

• INFANTILE NYSTAGMUS
• MISSENSE MUTATION
• MOTOR NYSTAGMUS
• GENE

Purpose: To screen mutations in the FERM domain-containing 7 (FRMD7) gene in a Chinese family with X-linked idiopathic congenital nystagmus (ICN).
Methods: It has been reported that FRMD7 mutations account for approximately 47% of X-linked nystagmus in Chinese patients. We collected 5 ml of blood samples from members of a family with X-linked ICN and 100 normal controls. Mutations in FRMD7 were determined by sequencing PCR products.
Results: We identified a previously unreported 4 bp deletion in FRMD7 (c.1486-1489 del TTTT) in a Chinese family. The mutation co-segregated with the disease phenotype in patients and female carriers, while it was not detected in other relatives or in the 100 normal controls.
Conclusions: Our results expand the spectrum of FRMD7 mutations causing ICN, and further confirm the role of FRMD7 in the pathogenesis of ICN. Direct sequencing of FRMD7 could be used as a diagnostic testing of idiopathic congenital nystagmus.

• 出版日期2011-10-22
• 单位北京积水潭医院; 北京大学