Novel intragenic FRMD7 deletion in a pedigree with congenital X-linked nystagmus.

Abstract excerpt

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...

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