Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 140A, Issue 1, Pages 1-7Publisher
WILEY
DOI: 10.1002/ajmg.a.31047
Keywords
bladder cancer; gain-of-function; HRAS; overgrowth syndrome; rhabdomyosarcoma
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Funding
- NATIONAL CENTER FOR RESEARCH RESOURCES [P20RR020173] Funding Source: NIH RePORTER
- NCRR NIH HHS [1P20 RR 020173-01] Funding Source: Medline
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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. (c) 2005 Wiley-Liss, Inc.
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