Novel intragenic FRMD7 deletion in a pedigree with congenital X-linked nystagmus.
OBJECTIVE
To identify the disease-causing mutation in a large 3 generation pedigree of X-linked congenital nystagmus.


METHODS
Twenty-three members of a single pedigree, including 7 affected males, 2 affected females, 5 obligate carriers, and 9 unaffected family members were tested for mutations in the FRMD7 gene using PCR-based DNA sequencing assays and multiplex PCR assays for deletions.


RESULTS
A hemizygous deletion of exons 2, 3, and 4 of FRMD7 was detected in all affected males in the family and was absent from 40 control subjects.


CONCLUSIONS
A range of missense, nonsense, frameshift, and splicing mutations in FRMD7 have been shown to cause X-linked congenital nystagmus. Here we show for the first time that large intragenic deletions of FRMD7 can also cause this form of nystagmus.
Fingert
John H
JH
Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA. john-fingert@uiowa.edu
Roos
Ben
B
Eyestone
Mari E
ME
Pham
Joshua D
JD
Mellot
Mei L
ML
Stone
Edwin
E
D019943:Amino Acid Substitution; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D020417:Nystagmus, Congenital / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction
D003598:Cytoskeletal Proteins; C516168:FRMD7 protein, human; D008565:Membrane Proteins