JOURNAL ARTICLE

HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation

Karen W Gripp, Angela E Lin, Deborah L Stabley, Linda Nicholson, Charles I Scott, Daniel Doyle, Yoko Aoki, Yoichi Matsubara, Elaine H Zackai, Pablo Lapunzina, Antonio Gonzalez-Meneses, Jennifer Holbrook, Cynthia A Agresta, Iris L Gonzalez, Katia Sol-Church
American Journal of Medical Genetics. Part A 2006 January 1, 140 (1): 1-7
16329078
Costello syndrome is a rare condition comprising mental retardation, distinctive facial appearance, cardiovascular abnormalities (typically pulmonic stenosis, hypertrophic cardiomyopathy, and/or atrial tachycardia), tumor predisposition, and skin and musculoskeletal abnormalities. Recently mutations in HRAS were identified in 12 Japanese and Italian patients with clinical information available on 7 of the Japanese patients. To expand the molecular delineation of Costello syndrome, we performed mutation analysis in 34 North American and 6 European (total 40) patients with Costello syndrome, and detected missense mutations in HRAS in 33 (82.5%) patients. All mutations affected either codon 12 or 13 of the protein product, with G12S occurring in 30 (90.9%) patients of the mutation-positive cases. In two patients, we found a mutation resulting in an alanine substitution in position 12 (G12A), and in one patient, we detected a novel mutation (G13C). Five different HRAS mutations have now been reported in Costello syndrome, however genotype-phenotype correlation remains incomplete.

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