MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2)

Richard A. King, Rebecca K. Willaert, Ramona M. Schmidt, Jacy Pietsch, Sarah Savage, Marcia J. Brott, James P. Fryer, C. Gail Summers, William S. Oetting

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78 Scopus citations


The heterogeneous group of disorders known as oculocutaneous albinism (OCA) shares cutaneous and ocular hypopigmentation associated with common developmental abnormalities of the eye. Mutations of at least 11 loci produce this phenotype. The majority of affected individuals develop some cutaneous melanin; this is predominantly seen as yellow/blond hair, whereas fewer have brown hair. The OCA phenotype is dependent on the constitutional pigmentation background of the family, with more OCA pigmentation found in families with darker constitutional pigmentation, which indicates that other genes may modify the OCA phenotype. Sequence variation in the melanocortin-1 receptor (MC1R) gene is associated with red hair in the normal population, but red hair is unusual in OCA. We identified eight probands with OCA who had red hair at birth. Mutations in the P gene were responsible for classic phenotype of oculocutaneous albinism type 2 (OCA2) in all eight, and mutations in the MC1R gene were responsible for the red (rather than yellow/blond) hair in the six of eight who continued to have red hair after birth. This is the first demonstration of a gene modifying the OCA phenotype in humans.

Original languageEnglish (US)
Pages (from-to)638-645
Number of pages8
JournalAmerican Journal of Human Genetics
Issue number3
StatePublished - Sep 1 2003

Bibliographical note

Funding Information:
We thank the families for their willingness to participate in these studies, which were supported, in part, by National Institutes of Health grant AR44649 and the Bernard and Mary Ellen Black family.


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