title: Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.
abstract: Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus. Screening of 42 singleton cases of idiopathic congenital nystagmus (28 male, 14 females) yielded three mutations (7%). We found restricted expression of FRMD7 in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability.
authors.affiliation: Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
authors.forename: Patrick
authors.initials: P
authors.lastname: Tarpey
authors.forename: Shery
authors.initials: S
authors.lastname: Thomas
authors.forename: Nagini
authors.initials: N
authors.lastname: Sarvananthan
authors.forename: Uma
authors.initials: U
authors.lastname: Mallya
authors.forename: Steven
authors.initials: S
authors.lastname: Lisgo
authors.forename: Chris J
authors.initials: CJ
authors.lastname: Talbot
authors.forename: Eryl O
authors.initials: EO
authors.lastname: Roberts
authors.forename: Musarat
authors.initials: M
authors.lastname: Awan
authors.forename: Mylvaganam
authors.initials: M
authors.lastname: Surendran
authors.forename: Rebecca J
authors.initials: RJ
authors.lastname: McLean
authors.forename: Robert D
authors.initials: RD
authors.lastname: Reinecke
authors.forename: Andrea
authors.initials: A
authors.lastname: Langmann
authors.forename: Susanne
authors.initials: S
authors.lastname: Lindner
authors.forename: Martina
authors.initials: M
authors.lastname: Koch
authors.forename: Sunila
authors.initials: S
authors.lastname: Jain
authors.forename: Geoffrey
authors.initials: G
authors.lastname: Woodruff
authors.forename: Richard P
authors.initials: RP
authors.lastname: Gale
authors.forename: Andrew
authors.initials: A
authors.lastname: Bastawrous
authors.forename: Chris
authors.initials: C
authors.lastname: Degg
authors.forename: Konstantinos
authors.initials: K
authors.lastname: Droutsas
authors.forename: Ioannis
authors.initials: I
authors.lastname: Asproudis
authors.forename: Alina A
authors.initials: AA
authors.lastname: Zubcov
authors.forename: Christina
authors.initials: C
authors.lastname: Pieh
authors.forename: Colin D
authors.initials: CD
authors.lastname: Veal
authors.forename: Rajiv D
authors.initials: RD
authors.lastname: Machado
authors.forename: Oliver C
authors.initials: OC
authors.lastname: Backhouse
authors.forename: Laura
authors.initials: L
authors.lastname: Baumber
authors.forename: Cris S
authors.initials: CS
authors.lastname: Constantinescu
authors.forename: Michael C
authors.initials: MC
authors.lastname: Brodsky
authors.forename: David G
authors.initials: DG
authors.lastname: Hunter
authors.forename: Richard W
authors.initials: RW
authors.lastname: Hertle
authors.forename: Randy J
authors.initials: RJ
authors.lastname: Read
authors.forename: Sarah
authors.initials: S
authors.lastname: Edkins
authors.forename: Sarah
authors.initials: S
authors.lastname: O'Meara
authors.forename: Adrian
authors.initials: A
authors.lastname: Parker
authors.forename: Claire
authors.initials: C
authors.lastname: Stevens
authors.forename: Jon
authors.initials: J
authors.lastname: Teague
authors.forename: Richard
authors.initials: R
authors.lastname: Wooster
authors.forename: P Andrew
authors.initials: PA
authors.lastname: Futreal
authors.forename: Richard C
authors.initials: RC
authors.lastname: Trembath
authors.forename: Michael R
authors.initials: MR
authors.lastname: Stratton
authors.forename: F Lucy
authors.initials: FL
authors.lastname: Raymond
authors.forename: Irene
authors.initials: I
authors.lastname: Gottlob
mesh_terms: D001921:Brain / Q000196:embryology / Q000378:metabolism; D002874:Chromosome Mapping; D041321:Chromosomes, Human, X; D003598:Cytoskeletal Proteins / Q000235:genetics* / Q000502:physiology; D005133:Eye Movements / Q000235:genetics / Q000502:physiology; D005260:Female; D018507:Gene Expression Regulation, Developmental; D050172:Genes, X-Linked; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000502:physiology; D009154:Mutation / Q000502:physiology; D020417:Nystagmus, Congenital / Q000235:genetics*; D010375:Pedigree; D012160:Retina / Q000378:metabolism
chemical_list: D003598:Cytoskeletal Proteins; C516168:FRMD7 protein, human; D008565:Membrane Proteins