Document Detail

A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.
MedLine Citation:
PMID:  17033969     Owner:  NLM     Status:  MEDLINE    
Activating mutations of FGFR3, a negative regulator of bone growth, are well known to cause a variety of short-limbed bone dysplasias and craniosynostosis syndromes. We mapped the locus causing a novel disorder characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL syndrome) to chromosome 4p. Because this syndrome recapitulated the phenotype of the Fgfr3 knockout mouse, we screened FGFR3 and subsequently identified a heterozygous missense mutation that is predicted to cause a p.R621H substitution in the tyrosine kinase domain and partial loss of FGFR3 function. These findings indicate that abnormal FGFR3 signaling can cause human anomalies by promoting as well as inhibiting endochondral bone growth.
Reha M Toydemir; Anna E Brassington; Pinar Bayrak-Toydemir; Patrycja A Krakowiak; Lynn B Jorde; Frank G Whitby; Nicola Longo; David H Viskochil; John C Carey; Michael J Bamshad
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.     Date:  2006-09-26
Journal Detail:
Title:  American journal of human genetics     Volume:  79     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  2006 Nov 
Date Detail:
Created Date:  2006-10-11     Completed Date:  2006-12-04     Revised Date:  2012-06-05    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  935-41     Citation Subset:  IM    
Department of Human Genetics, University of Utah, Salt Lake City, UT, USA.
Data Bank Information
Bank Name/Acc. No.:
OMIM/100800;  146000;  147670;  149730;  187600;  194190;  602849; RefSeq/NM_000142
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MeSH Terms
Amino Acid Sequence
Amino Acid Substitution
Base Sequence
Bone Diseases, Developmental / genetics*
DNA / genetics
Fingers / abnormalities
Hearing Loss, Bilateral / genetics
Hearing Loss, Sensorineural / genetics*
Mice, Knockout
Models, Molecular
Molecular Sequence Data
Mutation, Missense*
Protein Structure, Tertiary
Receptor, Fibroblast Growth Factor, Type 3 / chemistry,  deficiency,  genetics*
Sequence Homology, Amino Acid
Toes / abnormalities
Grant Support
HD-048895/HD/NICHD NIH HHS; RR-00064/RR/NCRR NIH HHS; U50/CCU822097-02//PHS HHS
Reg. No./Substance:
9007-49-2/DNA; EC protein, human; EC protein, mouse; EC, Fibroblast Growth Factor, Type 3

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

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