title: A novel frame-shift mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a Chinese family.
abstract: OBJECTIVE
  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.
authors: Department of Ophthalmology, Peking University 3rd Hospital, Beijing, PR China.
authors: Wei
authors: W
authors: Du
authors: Juan
authors: J
authors: Bu
authors: Jiamei
authors: J
authors: Dong
authors: Yanlei
authors: Y
authors: Jia
authors: Jing
authors: J
authors: Li
authors: Chen
authors: C
authors: Liang
authors: Shancheng
authors: S
authors: Si
authors: Lejin
authors: L
authors: Wang
mesh_terms: D000368:Aged; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D016022:Case-Control Studies; D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D050172:Genes, X-Linked; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D020417:Nystagmus, Congenital / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017384:Sequence Deletion; D012737:Sex Factors
chemical_list: D003598:Cytoskeletal Proteins; C516168:FRMD7 protein, human; D008565:Membrane Proteins