Document Detail

Paternal bias in parental origin of HRAS mutations in Costello syndrome.
MedLine Citation:
PMID:  16835863     Owner:  NLM     Status:  MEDLINE    
Costello syndrome (CS) is a rare congenital condition caused by heterozygous de novo missense mutations affecting the codon for glycine 12 or 13 of the HRAS gene. We have identified 39 CS patients harboring the p.Gly12Ser mutation (NM_005343.2:c.34 G > A), two patients with c.35G > C mutations resulting in p.Gly12Ala substitutions, and one patient carrying the p.Gly13Cys substitution (c.37G > A). We analyzed the region flanking the mutated sites in 42 probands and 59 parents, and used four polymorphic markers to trace the parental origin of the germline mutations: one highly polymorphic hexanucleotide (GGGCCT) repeat region, defining three alleles with different numbers of repeat units (two, three, or four), and three SNPs. One of the SNPs, rs12628 (c.81T > C), was found in strong linkage disequilibrium with the hexanucleotide repeat region. Out of a total of 24 probands with polymorphic markers, 16 informative families were tested and the paternal origin of the germline mutation was found in 14 CS probands; a distribution that is neither consistent with an equal likelihood of mutations arising in either parent (P = 0.0018), nor with exclusive paternal origin.
Katia Sol-Church; Deborah L Stabley; Linda Nicholson; Iris L Gonzalez; Karen W Gripp
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural    
Journal Detail:
Title:  Human mutation     Volume:  27     ISSN:  1098-1004     ISO Abbreviation:  Hum. Mutat.     Publication Date:  2006 Aug 
Date Detail:
Created Date:  2006-08-21     Completed Date:  2006-10-16     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9215429     Medline TA:  Hum Mutat     Country:  United States    
Other Details:
Languages:  eng     Pagination:  736-41     Citation Subset:  IM    
Department of Biomedical Research, Nemours' Children's Clinic, Wilmington, Delaware, USA.
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MeSH Terms
Abnormalities, Multiple / genetics*
Base Sequence
Germ-Line Mutation*
Inheritance Patterns*
Mental Retardation / genetics*
Middle Aged
Molecular Sequence Data
Paternal Age
Polymorphism, Genetic
Proto-Oncogene Proteins p21(ras) / genetics*
Grant Support
1 P20 RR020173-01/RR/NCRR NIH HHS
Reg. No./Substance:
EC protein, human; EC Proteins p21(ras)

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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