title: Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus.
abstract: OBJECTIVE
  To screen mutations in FERM domain-containing protein 7 (FRMD7) gene in two Chinese families with X-linked idiopathic congenital nystagmus (XLICN).
  
  
  METHODS
  Common ophthalmic data and peripheral blood of two Chinese XLICN families (families A and B) were collected after informed consent. Genomic DNA was prepared from the peripheral blood of members of the two families and from 100 normal controls. Mutations in the FRMD7 gene were determined by directly sequencing polymerase chain reaction (PCR) products.
  
  
  RESULTS
  We identified a novel mutation c.980_983delATTA compound with c.986C>A mutation in the 11th exon of FRMD7 in family B, and a previously reported splicing mutation c.781C>G (p.R261G) [corrected] in family A. The mutations were detected in patients and female carriers, while they were absent in other relatives or in the 100 normal controls.
  
  
  CONCLUSIONS
  Our results expand the spectrum of FRMD7 mutations in association with XLICN, and further confirm that the mutations of FRMD7 are the underlying molecular mechanism for XLICN.
authors.affiliation: Eye Center, the Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310009, China.
authors.forename: Feng-wei
authors.initials: FW
authors.lastname: Song
authors.forename: Bin-bin
authors.initials: BB
authors.lastname: Chen
authors.forename: Zhao-hui
authors.initials: ZH
authors.lastname: Sun
authors.forename: Li-ping
authors.initials: LP
authors.lastname: Wu
authors.forename: Su-juan
authors.initials: SJ
authors.lastname: Zhao
authors.forename: Qi
authors.initials: Q
authors.lastname: Miao
authors.forename: Xia-jing
authors.initials: XJ
authors.lastname: Tang
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002681:China; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D020417:Nystagmus, Congenital / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D055815:Young Adult
chemical_list: D003598:Cytoskeletal Proteins; C516168:FRMD7 protein, human; D008565:Membrane Proteins