HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

GPR143 gene mutation analysis in pediatric patients with albinism.

AbstractBACKGROUND:
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.
AuthorsKatarina Trebušak Podkrajšek, Branka Stirn Kranjc, Tinka Hovnik, Jernej Kovač, Tadej Battelino
JournalOphthalmic genetics (Ophthalmic Genet) Vol. 33 Issue 3 Pg. 167-70 (Sep 2012) ISSN: 1744-5094 [Electronic] England
PMID22486324 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • DNA Primers
  • Eye Proteins
  • GPR143 protein, human
  • Membrane Glycoproteins
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

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: