title: Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus.
abstract: OBJECTIVE
  Congenital motor nystagmus (CMN) is a relatively common oculomotor disorder characterized by bilateral uncontrollable ocular oscillations. Recently, the FRMD7 gene mutation has been identified as the genetic cause of CMN. The purpose of this study was to identify mutations of the FRMD7 gene in Chinese patients with CMN.
  
  
  METHODS
  Clinical data and genomic DNA of three Chinese CMN families were collected after informed consent. Genescan by two-point linkage analysis combined with haplotype analysis was performed and mutation screening of the FRMD7 gene was conducted by direct sequencing.
  
  
  RESULTS
  Maximum two-point LOD scores of 2.00, 1.76, and 1.16 at theta=0.00 were obtained with markers in proximity to the FRMD7 gene on chromosome Xp26 in the three CMN families. Mutation screening in the FRMD7 gene identified two novel missense mutations (c.781C>G and c.886G>C) and one reported nonsense mutation (c.1003C>T). These nucleotide alterations were not seen in unaffected members of the families or in 100 unrelated control subjects.
  
  
  CONCLUSIONS
  This study widens the mutation spectrum of the FRMD7 gene.
authors: Department of Neurology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China. brzhang@zju.edu.cn
authors: Baorong
authors: B
authors: Zhang
authors: Zhirong
authors: Z
authors: Liu
authors: Guohua
authors: G
authors: Zhao
authors: Xin
authors: X
authors: Xie
authors: Xinzhen
authors: X
authors: Yin
authors: Zhengmao
authors: Z
authors: Hu
authors: Shanhu
authors: S
authors: Xu
authors: Qian
authors: Q
authors: Li
authors: Fei
authors: F
authors: Song
authors: Jun
authors: J
authors: Tian
authors: Wei
authors: W
authors: Luo
authors: Meiping
authors: M
authors: Ding
authors: Jinfu
authors: J
authors: Yin
authors: Kun
authors: K
authors: Xia
authors: Jiahui
authors: J
authors: Xia
mesh_terms: D044466:Asian People / Q000235:genetics*; D018389:Codon, Nonsense; D003596:Cytosine; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked; D008040:Genetic Linkage; D006147:Guanine; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D020125:Mutation, Missense; D020417:Nystagmus, Congenital / Q000235:genetics*; D010375:Pedigree
chemical_list: D018389:Codon, Nonsense; D003598:Cytoskeletal Proteins; C516168:FRMD7 protein, human; D008565:Membrane Proteins; D006147:Guanine; D003596:Cytosine