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Abstract Background X-linked ocular albinism type 1 (OA1) is caused by mutations in <it>OA1 </it>gene, which encodes a membrane glycoprotein localised to melanosomes. OA1 mainly affects pigment production in the eye, resulting in optic changes associated with albinism including hypopigmentation of the retina, nystagmus, strabismus, foveal hypoplasia, abnormal crossing of the optic fibers and reduced visual acuity. Affected Caucasian males usually appear to have normal skin and hair pigment. Results We identified three previously undescribed mutations consisting of two intragenic deletions (one encompassing exon 6, the other encompassing exons 7–8), and a point mutation (310delG) in exon 2. We report the development of a new method for diagnosis of heterozygous deletions in <it>OA1 </it>gene based on measurement of gene copy number using real-time quantitative PCR from genomic DNA. Conclusion The identification of <it>OA1 </it>mutations in families earlier reported as families with hereditary nystagmus indicate that ocular albinism type 1 is probably underdiagnosed. Our method of real-time quantitative PCR of <it>OA1 </it>exons with <it>DMD exon </it>as external standard performed on the LightCycler™ allows quick and accurate carrier-status assessment for at-risk females.</p

bmc genomic data

Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay.