Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.
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.
Tarpey
Patrick
P
Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Thomas
Shery
S
Sarvananthan
Nagini
N
Mallya
Uma
U
Lisgo
Steven
S
Talbot
Chris J
CJ
Roberts
Eryl O
EO
Awan
Musarat
M
Surendran
Mylvaganam
M
McLean
Rebecca J
RJ
Reinecke
Robert D
RD
Langmann
Andrea
A
Lindner
Susanne
S
Koch
Martina
M
Jain
Sunila
S
Woodruff
Geoffrey
G
Gale
Richard P
RP
Bastawrous
Andrew
A
Degg
Chris
C
Droutsas
Konstantinos
K
Asproudis
Ioannis
I
Zubcov
Alina A
AA
Pieh
Christina
C
Veal
Colin D
CD
Machado
Rajiv D
RD
Backhouse
Oliver C
OC
Baumber
Laura
L
Constantinescu
Cris S
CS
Brodsky
Michael C
MC
Hunter
David G
DG
Hertle
Richard W
RW
Read
Randy J
RJ
Edkins
Sarah
S
O'Meara
Sarah
S
Parker
Adrian
A
Stevens
Claire
C
Teague
Jon
J
Wooster
Richard
R
Futreal
P Andrew
PA
Trembath
Richard C
RC
Stratton
Michael R
MR
Raymond
F Lucy
FL
Gottlob
Irene
I
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
D003598:Cytoskeletal Proteins; C516168:FRMD7 protein, human; D008565:Membrane Proteins