Document Detail


Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
MedLine Citation:
PMID:  7987400     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Crouzon syndrome is an autosomal dominant condition causing premature fusion of the cranial sutures (craniosynostosis) and maps to chromosome 10q25-q26. We now present evidence that mutations in the fibroblast growth factor receptor 2 gene (FGFR2) cause Crouzon syndrome. We found SSCP variations in the B exon of FGFR2 in nine unrelated affected individuals as well as complete cosegregation between SSCP variation and disease in three unrelated multigenerational families. In four sporadic cases, the normal parents did not have SSCP variation. Finally, direct sequencing has revealed specific mutations in the B exon in all nine sporadic and familial cases, including replacement of a cysteine in an immunoglobulin-like domain in five patients.
Authors:
W Reardon; R M Winter; P Rutland; L J Pulleyn; B M Jones; S Malcolm
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Nature genetics     Volume:  8     ISSN:  1061-4036     ISO Abbreviation:  Nat. Genet.     Publication Date:  1994 Sep 
Date Detail:
Created Date:  1995-01-06     Completed Date:  1995-01-06     Revised Date:  2012-06-05    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  98-103     Citation Subset:  IM    
Affiliation:
Mothercare Unit of Clinical Genetics and Fetal Medicine, Institute of Child Health, London, UK.
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MeSH Terms
Descriptor/Qualifier:
Base Sequence
Chromosomes, Human, Pair 10*
Craniofacial Dysostosis / genetics*
Exons
Female
Humans
Lod Score
Male
Molecular Sequence Data
Mutation
Pedigree
Polymorphism, Single-Stranded Conformational
Receptor Protein-Tyrosine Kinases / genetics*
Receptor, Fibroblast Growth Factor, Type 2
Receptors, Fibroblast Growth Factor / genetics*
Chemical
Reg. No./Substance:
0/Receptors, Fibroblast Growth Factor; EC 2.7.10.1/FGFR2 protein, human; EC 2.7.10.1/Receptor Protein-Tyrosine Kinases; EC 2.7.10.1/Receptor, Fibroblast Growth Factor, Type 2

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


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