Current Albinism Medical Journal News...
Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X-linked ocular albinism.
Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X-linked ocular albinism.
Clin Experiment Ophthalmol. 2010 Jul;38(5):489-95
Authors: Martinez-Garcia M, Riveiro-Alvarez R, Villaverde-Montero C, Cantalapiedra D, Garcia-Sandoval B, Ayuso C, Trujillo-Tiebas MJ
Background: This study was undertaken to analyse the OA1 gene (GPR143) and its involvement in a Spanish family presenting with nystagmus, a common symptom of X-linked ocular albinism (XLOA). Methods: DNA samples from the index case and eight relatives were analysed by multiplex ligation-dependent probe amplification (MLPA). Sequence analysis and restriction assay were used to confirm the results. In addition, an analysis of a STR located in intron 1 of the OA1 gene (OA-CA) was performed. Results: The father of the proband presented with nystagmus, a feature consistent with XLOA. Mutation screening by multiplex ligation-dependent probe amplification and sequence analysis of the exon 2 of the OA1 gene led to the identification of the novel p.Glu129fsX35 (g.5815delA) mutation in two affected males and four carrier females. Three relatives were found to be non-mutated. The deletion detected resulted in a truncated protein 35 codons downstream and generated a new restriction site for the XcmI endonuclease. Additionally, microsatellite analysis showed co-segregation with the disease in the family. Conclusions: A novel deletion in the OA1 gene was identified in a Spanish family with ocular albinism. The mutation detected is likely a loss-of-function alteration. To the best of our knowledge, we describe the first Spanish family known to present with XLOA due to mutations in the OA1 gene.
PMID: 20649618 [PubMed - in process]