Document Detail

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes.
MedLine Citation:
PMID:  8841188     Owner:  NLM     Status:  MEDLINE    
Pfeiffer syndrome (PS; McKusick MIM 101,600) is an autosomal dominant craniosynostosis syndrome with characteristic craniofacial anomalies and broad thumbs and big toes. We have previously demonstrated genetic heterogeneity in PS and mapped a gene to chromosome 8 (ref. 3) and a second to chromosome 10 (ref. 4). The gene on chromosome 8 is the fibroblast growth factor receptor 1 (FGFR1) with a common mutation (C755G) predicting a Pro252Arg substitution. The gene on chromosome 10 is FGFR2 with several different mutations causing sporadic and familial PS (Table 1). We report a recurrent single point mutation in the FGFR3 gene, located on chromosome 4p, in ten unrelated families with craniosynostosis syndromes. This mutation (C749G) predicts a Pro250Arg amino acid substitution in the extracellular domain of the FGFR3 protein. Interestingly, this common mutation occurs precisely at the analogous position within the FGFR3 protein as the mutations in FGFR1 (Pro252Arg) and FGFR2 (Pro253Arg) previously reported in Pfeiffer and Apert syndromes, respectively.
G A Bellus; K Gaudenz; E H Zackai; L A Clarke; J Szabo; C A Francomano; M Muenke
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Nature genetics     Volume:  14     ISSN:  1061-4036     ISO Abbreviation:  Nat. Genet.     Publication Date:  1996 Oct 
Date Detail:
Created Date:  1996-11-12     Completed Date:  1996-11-12     Revised Date:  2012-06-05    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  174-6     Citation Subset:  IM    
Medical Genetics Branch, National Center for Human Genome Research, National Institutes of Health, Bethesda, Maryland 20892, USA.
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MeSH Terms
Acrocephalosyndactylia / genetics*
Amino Acid Sequence
Craniofacial Dysostosis / genetics
Craniosynostoses / genetics*
DNA Mutational Analysis
Genes, Dominant / genetics
Molecular Sequence Data
Point Mutation / genetics*
Receptor Protein-Tyrosine Kinases / genetics*
Receptor, Fibroblast Growth Factor, Type 2
Receptors, Fibroblast Growth Factor / genetics*
Grant Support
Reg. No./Substance:
0/Receptors, Fibroblast Growth Factor; EC protein, human; EC Protein-Tyrosine Kinases; EC, Fibroblast Growth Factor, Type 2

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