Albinim+Primary+Research

__**DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics**__

There were 22 mutations studied in oculocutaneous albinism, in which, 14 were from a group of 61 patients and 8 were from a prior study. The study was done by looking at mutations in the four main genes for oculocutaneous albinism, and cases of missing heritability.

Results of the 22 mutations looked at:
 * 14 were in the TYR gene (OCA-1)
 * 5 resulted in premature stop codons
 * 7 were missense mutations
 * 5 were in the OCA2 gene (OCA-2)
 * 2 were splice site mutations
 * 1 was a partial deletion
 * 2 were missense mutations
 * 1 was in the TYRP1 gene (OCA-3)
 * Missense mutation
 * 2 were in the SLC45A2 gene (OCA-4)
 * 1 resulted in a premature stop codon




 * Some OCA cases remain genetically unexplained. This is called missing heritability.

Missing Heritability Results: The goal was to see if the rate of missing heritability differed between patients with complete (minimal to no pigmentation) and partial (trace or partial pigmentation) OCA. There were 52 patients studied. In the complete albinism group, there were two mutations to explain the albinism in 21 of 23 patients (91%). In the partial albinism group, only 19 of 29 patients (65%) had two mutations to explain albinism. There were 16 cases which did not have mutations in any one known OCA gene.



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