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Ophthalmic Genet. 2012 Sep;33(3):167-70. doi: 10.3109/13816810.2011.559651. Epub 2012 Apr 9.

GPR143 gene mutation analysis in pediatric patients with albinism.

Author information

1
Centre for Medical Genetics, University Children's Hospital, University Medical Centre, Ljubljana, Slovenia. katarina.trebusak@kclj.si

Abstract

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 melanosome specific G-protein coupled receptor. Patients typically present with moderately 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 "de novo" and a novel intronic c.360 + 5G>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 1 in a significant portion of boys with clinical signs of albinism.

PMID:
22486324
DOI:
10.3109/13816810.2011.559651
[Indexed for MEDLINE]

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