Author(s): Fingert JH, Roos B, Eyestone ME, Pham JD, Mellot ML,
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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.
This article was published in Ophthalmic Genet
and referenced in Journal of Clinical & Experimental Ophthalmology