GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism

摘要: Ocular albinism type 1 (OA), caused by mutations in the OA1 gene, encodes a G-protein coupled receptor, OA1, localized melanosomal membranes of retinal pigment epithelium (RPE). This disorder is characterized both RPE macro-melanosomes and abnormal decussation ganglion cell axons at brain's optic chiasm. We demonstrated previously that Oa1 specifically activates Gαi3, which also signals transduction pathway regulates biogenesis. In this study, we screened human Gαi3 GNAI3, DNA samples from 26 patients who had all clinical characteristics OA but whom specific mutation gene not been found, 6 normal control individuals. Using Agilent HaloPlex Target Enrichment System next-generation sequencing (NGS) on Illumina MiSeq platform, identified 518 variants after rigorous filtering. Many these were corroborated Sanger sequencing. Overall, 98.8% coverage GNAI3 was obtained amplicons. Of variants, non-synonymous 3 synonymous exons, 41 non-coding exon embedded 3' untranslated region (UTR), 5' UTR, 462 introns. These included novel SNVs, insertions, deletions, frameshift mutation. All found least one patient none samples. computational methods, modeled protein its exonic determined several may be cause disease studied. Thus, have as second possibly responsible for X-linked ocular albinism.