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The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism
Author(s) -
Oetting William S.,
Pietsch Jacy,
Brott Marcia J.,
Savage Sarah,
Fryer James P.,
Summers C. Gail,
King Richard A.
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32654
Subject(s) - oculocutaneous albinism , albinism , tyrosinase , genetics , biology , allele , mutation , gene , compound heterozygosity , enzyme , biochemistry
Mutations in the gene for tyrosinase, the key enzyme in melanin synthesis, are responsible for oculocutaneous albinism type 1, and more than 100 mutations of this gene have been identified. The c.1205G > A variant of the tyrosinase gene (rs1126809) predicts p.R402Q and expression studies show thermolabile enzyme activity for the variant protein. The Q402 allele has been associated with autosomal recessive ocular albinism when it is in trans with a tyrosinase gene mutation associated with oculocutaneous albinism type 1. We have identified 12 families with oculocutaneous albinism type 1 that exhibit segregation of the c.1205G > A variant with a known pathologic mutation on the homologous chromosome, and demonstrate no genetic association between autosomal recessive oculocutaneous albinism and the Q402 variant. We conclude that the codon 402 variant of the tyrosinase gene is not associated with albinism. © 2009 Wiley‐Liss, Inc.