title: Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus.
abstract: OBJECTIVE
  Infantile nystagmus (IN) is an inherited disorder characterized by bilateral ocular oscillatory movements. Recently, mutations in FRMD7 were found to be responsible for X-linked idiopathic infantile nystagmus . We investigated the role of the FRMD7 gene mutations in seven Chinese families with infantile nystagmus.
  
  
  METHODS
  Linkage analysis was performed with fluorescently labeled microsatellite markers, DXS1001 and DXS1047. Analysis of FRMD7 gene mutations was performed by direct sequence to the whole coding regions and exon-intron boundaries of FRMD7 gene in all affected members in seven families with IN.
  
  
  RESULTS
  Five novel FRMD7 gene mutations, 70 G>T(p.G24W) in exon 2, c.689-690delAG (p.Ser232del) in exon8, c. 782G>A (p.R260Q) and c. 812G>T (p. C271F) in exon 9, and c. 910C>T (R303X) in exon 10, were identified in five of seven Chinese families with X-linked infantile nystagmus. But we didn't detect the FRMD7 gene mutation in one of seven families, although a positive LOD score of 2.42 (thetamax=0.1) was obtained at DXS1047 . We also found the same mutation, which is c. 782G>A (p.R260Q), occurred in two different families.
  
  
  CONCLUSIONS
  This is first report that five kinds of FRMD7 gene mutation types occurred in Chinese families with IN, which further support that FRMD7 gene mutations are the underlying pathogenesis of the molecular mechanism for infantile nystagmus.
authors.affiliation: Tianjin Eye Hospital, Tianjin Eye Institute, Tianjin, People's Republic of China. lnd30@163.com
authors.forename: Ningdong
authors.initials: N
authors.lastname: Li
authors.forename: Liming
authors.initials: L
authors.lastname: Wang
authors.forename: Lihong
authors.initials: L
authors.lastname: Cui
authors.forename: Li
authors.initials: L
authors.lastname: Zhang
authors.forename: Suzhen
authors.initials: S
authors.lastname: Dai
authors.forename: Hongyan
authors.initials: H
authors.lastname: Li
authors.forename: Xia
authors.initials: X
authors.lastname: Chen
authors.forename: Lina
authors.initials: L
authors.lastname: Zhu
authors.forename: James F
authors.initials: JF
authors.lastname: Hejtmancik
authors.forename: Kanxing
authors.initials: K
authors.lastname: Zhao
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002681:China; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008126:Lod Score; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D020417:Nystagmus, Congenital / Q000235:genetics*; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
chemical_list: D003598:Cytoskeletal Proteins; C516168:FRMD7 protein, human; D008565:Membrane Proteins