Journal article
Novel Intragenic FRMD7 Deletion in a Pedigree with Congenital X-Linked Nystagmus
Ophthalmic Genetics, Vol.31(2), pp.77-80
06/01/2010
DOI: 10.3109/13816810903584989
PMID: 20450309
Abstract
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.
Details
- Title: Subtitle
- Novel Intragenic FRMD7 Deletion in a Pedigree with Congenital X-Linked Nystagmus
- Creators
- John H FingertBen RoosMari E EyestoneJoshua D PhamMei L MellotEdwin Stone
- Resource Type
- Journal article
- Publication Details
- Ophthalmic Genetics, Vol.31(2), pp.77-80
- DOI
- 10.3109/13816810903584989
- PMID
- 20450309
- NLM abbreviation
- Ophthalmic Genet
- ISSN
- 1381-6810
- eISSN
- 1744-5094
- Publisher
- Taylor & Francis
- Language
- English
- Date published
- 06/01/2010
- Academic Unit
- Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
- Record Identifier
- 9983979919202771
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