title: [The G990T mutation of the FRMD7 gene in a Chinese family with congenital idiopathic nystagmus].
abstract: OBJECTIVE
  To study the mutation of FRMD7 gene in a Chinese family with congenital idiopathic nystagmus.
  
  
  METHODS
  Forty-six individuals in the Chinese family with congenital idiopathic nystagmus, including 16 patients, 19 normal siblings and 11 spouses, were investigated under informed consent. Genomic DNA of all 46 members was isolated by standard protocol. The X-linked inherited pattern was ascertained by investigating the history of the family members and the clinical feature of each individual. The genome scan on X chromosome was performed after PCR amplification for microsatellite markers. LOD scores were calculated with Linkage 5.1. Direct DNA sequence analysis was carried out to find the gene mutation responsible for the disease.
  
  
  RESULTS
  A maximum LOD score of 8.55 (theta=0) was obtained with polymorphic marker DXS1047. Haplotype construction of the family defined the disease interval between DXS8059 and DXS8033. Direct DNA sequence analysis revealed a heterozygous mutation of G990T in exon 9 of the FRMD7 gene in all patients, which was not present in unaffected family members.
  
  
  CONCLUSIONS
  Congenital nystagmus is a clinically and genetically heterogeneous ocular movement disease. The mutation of G990T of the FRMD7 gene is the underlying molecular pathogenesis for this family with congenital nystagmus.
authors.affiliation: Department of Ophthalmic Molecular Genetics, Tianjin Eye Hospital, Tianjin, People's Republic of China.
authors.forename: Ning-dong
authors.initials: ND
authors.lastname: Li
authors.forename: Li-hong
authors.initials: LH
authors.lastname: Cui
authors.forename: Li-ming
authors.initials: LM
authors.lastname: Wang
authors.forename: Hui-zhi
authors.initials: HZ
authors.lastname: Ma
authors.forename: Li-ling
authors.initials: LL
authors.lastname: Zhang
authors.forename: Yi-ying
authors.initials: YY
authors.lastname: Yue
authors.forename: Kan-xing
authors.initials: KX
authors.lastname: Zhao
mesh_terms: D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005190:Family; D005260:Female; D015894:Genome, Human / Q000235:genetics; D023281:Genomics; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D018895:Microsatellite Repeats / Q000235:genetics; D009154:Mutation; D020417:Nystagmus, Congenital / Q000235:genetics*; D010375:Pedigree; D017422:Sequence Analysis, DNA
chemical_list: D003598:Cytoskeletal Proteins; C516168:FRMD7 protein, human; D008565:Membrane Proteins