Fig. 3: High-level molecular diagnoses in 1208 probands from the University Hospital of Bordeaux albinism cohort. | Nature Communications

Fig. 3: High-level molecular diagnoses in 1208 probands from the University Hospital of Bordeaux albinism cohort.

From: The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism

Fig. 3

It was not possible to detect a molecular diagnosis in 24% of cases (‘unknown’ category). The following genes were implicated in the remaining probands: TYR (34%), OCA2 (19%), SLC45A2 (8%), GPR143 (5%), Hermansky-Pudlak syndrome (HPS) related genes (5%), SLC24A5 (2%), other albinism-related genes (3%). A significant subset of cases with TYR-related albinism was found/presumed to carry either the TYR c.[−301C;575A;1205A] or the TYR c.[−301C;575 C;1205A] haplotype (15% in heterozygous state [‘TYR heterozygous haplotype’ category]; 3% in homozygous state [‘TYR homozygous haplotype’ category]). Further information including a list of all molecular diagnoses can be found in Supplementary Data 1.

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