These two authors contributed equally to this work.
Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X-linked ocular albinism
Article first published online: 2 MAR 2010
© 2010 The Authors. Journal compilation © 2010 Royal Australian and New Zealand College of Ophthalmologists
Clinical & Experimental Ophthalmology
Volume 38, Issue 5, pages 489–495, July 2010
How to Cite
Martinez-Garcia, M., Riveiro-Alvarez, R., Villaverde-Montero, C., Cantalapiedra, D., Garcia-Sandoval, B., Ayuso, C. and Trujillo-Tiebas, M. J. (2010), Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X-linked ocular albinism. Clinical & Experimental Ophthalmology, 38: 489–495. doi: 10.1111/j.1442-9071.2010.02282.x
- Issue published online: 6 JUL 2010
- Article first published online: 2 MAR 2010
- Received 30 September 2009; accepted 13 January 2010.
- Ocular albinism;
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.