DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

[oculocutaneous albinism]

Oculocutaneous albinism (OCA ) is a rare genetic disorder of melanin synthesis that results in hypopigmented hair , skin , and eyes . There are four types of OCA caused by mutations in TYR (OCA -1 ), OCA 2 (OCA -2 ), TYRP 1 (OCA -3 ), or SLC 45 A 2 (OCA -4 ). Here we report 22 novel mutations in the OCA genes ; 14 from a cohort of 61 patients seen as part of the NIH OCA Natural History Study and eight from a prior study at the University of Minnesota . We also include a comprehensive list of almost 600 previously reported OCA mutations along with ethnicity information , carrier frequencies , and in silico pathogenicity predictions as a supplement . In addition to discussing the clinical and molecular features of OCA , we address the cases of apparent missing heritability . In our cohort , 26 % of patients did not have two mutations in a single OCA gene . We demonstrate the utility of multiple detection methods to reveal mutations missed by Sanger sequencing . Finally , we review the TYR p .R 402 Q temperature-sensitive variant and confirm its association with cases of albinism with only one identifiable TYR mutation .

Diseases
Validation

Diseases presenting "rare genetic disorder" symptom

aniridia

aromatase deficiency

cohen syndrome

congenital adrenal hyperplasia

cushing syndrome

fabry disease

familial hypocalciuric hypercalcemia

hirschsprung disease

holt-oram syndrome

kabuki syndrome

kindler syndrome

lamellar ichthyosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

oculocutaneous albinism

oligodontia

papillon-lefèvre syndrome

proteus syndrome

triple a syndrome

werner syndrome

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