title: A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital nystagmus.
abstract: 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.
authors.affiliation: Department of Genetics, National Research Institute for Family Planning, Beijing, China.
authors.forename: Xiang
authors.initials: X
authors.lastname: He
authors.forename: Feng
authors.initials: F
authors.lastname: Gu
authors.forename: Ze
authors.initials: Z
authors.lastname: Wang
authors.forename: Chong
authors.initials: C
authors.lastname: Wang
authors.forename: Yi
authors.initials: Y
authors.lastname: Tong
authors.forename: Yujing
authors.initials: Y
authors.lastname: Wang
authors.forename: Juhua
authors.initials: J
authors.lastname: Yang
authors.forename: Wei
authors.initials: W
authors.lastname: Liu
authors.forename: Meng
authors.initials: M
authors.lastname: Zhang
authors.forename: Xu
authors.initials: X
authors.lastname: Ma
mesh_terms: D001483:Base Sequence; D002681:China; D041321:Chromosomes, Human, X / Q000235:genetics; D003598:Cytoskeletal Proteins / Q000737:chemistry / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000737:chemistry / Q000235:genetics*; D020417:Nystagmus, Congenital / Q000235:genetics*; D010375:Pedigree; D019683:Penetrance; D017434:Protein Structure, Tertiary; D017384:Sequence Deletion
chemical_list: D003598:Cytoskeletal Proteins; C516168:FRMD7 protein, human; D008565:Membrane Proteins