A Novel Frameshift Mutation in FRMD7 Causing X-Linked Idiopathic Congenital Nystagmus

作者：He, Xiang; Gu, Feng; Wang, Ze; Wang, Chong; Tong, Yi; Wang, Yujing; Yang, Juhua; Liu, Wei; Zhang, Meng; Ma, Xu^*

来源：Genetic Testing, 2008, 12(4): 607-613.

DOI：10.1089/gte.2008.0070

• MISSENSE MUTATION
• MOTOR NYSTAGMUS
• INFANTILE NYSTAGMUS
• CHINESE FAMILIES
• GENE
• TURNOVER

Idiopathic congenital nystagmus (ICN) is a common oculomotor disorder characterized by bilateral involuntary, periodic, and predominantly ocular oscillations. X-linked ICN (XLICN) with incomplete penetrance in females is the most common inheritance form, and FERM domain containing (FRMD7) mutation is the major reason for XLICN families. To date, 39 FRMD7 mutations have been identified, and 50% of the XLICN pedigrees have yielded FRMD7 mutations in the Western population. In this study, we identified a novel frameshift mutation (c.1274-1275delTG) in the FRMD7 gene in six XLICN pedigrees. Incorporated with data reported from other two Chinese groups, approximately 47% XLICN pedigrees were caused by the FRMD7 mutation in China. Therefore, this study showed that mutation analysis of the FRMD7 gene had diagnostic value not only in the Western population but also in one of the biggest Eastern populations, Chinese XLICN families. In addition, the results indicated the type of FRMD7 mutation associated with the penetrance of female carriers of XLICN.

• 出版日期2008-12
• 单位福建医科大学; 中国医学科学院北京协和医院; 天津医科大学; 国家卫生计生委科学技术研究所