Abstract | BACKGROUND: 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.
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Authors | Katarina Trebušak Podkrajšek, Branka Stirn Kranjc, Tinka Hovnik, Jernej Kovač, Tadej Battelino |
Journal | Ophthalmic genetics
(Ophthalmic Genet)
Vol. 33
Issue 3
Pg. 167-70
(Sep 2012)
ISSN: 1744-5094 [Electronic] England |
PMID | 22486324
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- DNA Primers
- Eye Proteins
- GPR143 protein, human
- Membrane Glycoproteins
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Topics |
- Adolescent
- Albinism, Oculocutaneous
(genetics)
- Child
- Child, Preschool
- DNA Mutational Analysis
- DNA Primers
(chemistry)
- Eye Proteins
(genetics)
- Humans
- Infant
- Male
- Membrane Glycoproteins
(genetics)
- Mutation
- Polymerase Chain Reaction
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