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GPR143 gene mutation analysis in pediatric patients with albinism
Trebušak Podkrajšek, Katarina ...
Background: X-linked ocular albinism type 1 is difficult to differentiate clinically from other forms of albinism in young patients. X-linked ocular albinism type 1 is caused by mutations in the ...GPR143 gene, encoding melanosomespecific G-protein coupled receptor. Patients typically present withmoderately to severely reduced visual acuity, nystagmus, strabismus, photophobia, iris translucency, hypopigmentation of the retina, foveal hypoplasia and misrouting of optic nerve fibers at the chiasm. Materials and Methods: Following clinical ophthalmological evaluation, GPR143 gene mutational analyses were performed in a cohort of 15 pediatric male patients with clinical signs of albinism. Results: Three different mutations in the GPR143 gene were identified in four patients, including a novel c.886G>A (p.Gly296Arg) mutation occurring Žde novoŽ and a novel intronic c.360Ž+Ž5G>A mutation, identified in two related boys. Conclusions: Four patients with X-linked ocular albinism type 1 were identified from a cohort of 15 boys with clinical signs of albinism using mutation detection methods. Genetic analysis offers the possibility of early definitive diagnosis of ocular albinism type 1in a significant portion of boys with clinical signs of albinism.
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