title: GPR143 gene mutation analysis in pediatric patients with albinism.
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.
  
  
  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.
authors.affiliation: Centre for Medical Genetics, University Children's Hospital, University Medical Centre, Ljubljana, Slovenia. katarina.trebusak@kclj.si
authors.forename: Katarina
authors.initials: K
authors.lastname: Trebušak Podkrajšek
authors.forename: Branka
authors.initials: B
authors.lastname: Stirn Kranjc
authors.forename: Tinka
authors.initials: T
authors.lastname: Hovnik
authors.forename: Jernej
authors.initials: J
authors.lastname: Kovač
authors.forename: Tadej
authors.initials: T
authors.lastname: Battelino
mesh_terms: D000293:Adolescent; D016115:Albinism, Oculocutaneous / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D005136:Eye Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D017931:DNA Primers; D005136:Eye Proteins; C095276:GPR143 protein, human; D008562:Membrane Glycoproteins