Richard A. King, Rebecca K. Willaert, Ramona M

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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 The American Journal of Human Genetics Volume 73, Issue 3, Pages 638-645 (September 2003) DOI: 10.1086/377569 Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 1 Proband at age 18 years, showing red hair and light skin The American Journal of Human Genetics 2003 73, 638-645DOI: (10.1086/377569) Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 2 Family pedigree. Proband marked with arrow. Hair color indicated for parental generation and sibling. Hatched family members have red hair. The American Journal of Human Genetics 2003 73, 638-645DOI: (10.1086/377569) Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 3 P gene sequencing results. a, Proband heterozygous at exon 14, codon 489, with a change from asparagine (AAT) to an aspartic acid (GAT). Mutation N489D is paternal in origin. b, Proband heterozygous at exon 19, codon 679, with a change from tryptophan (TGG) to cysteine (TGC). Mutation W679C is maternal in origin. The American Journal of Human Genetics 2003 73, 638-645DOI: (10.1086/377569) Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 4 MC1R gene sequencing results. a, Proband heterozygous at codon 151, with a change from arginine (CGC) to cysteine (TGC). Mutation R151C is paternal in origin. b, Proband heterozygous at codon 160, with a change from arginine (CGG) to tryptophan (TGG). Mutation R160W is maternal in origin. The sibling is also heterozygous for the maternal mutation. The American Journal of Human Genetics 2003 73, 638-645DOI: (10.1086/377569) Copyright © 2003 The American Society of Human Genetics Terms and Conditions