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A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.
Muenke M,
Schell U,
Hehr A,
Robin NH,
Losken HW,
Schinzel A,
Pulleyn LJ,
Rutland P,
Reardon W,
Malcolm S, et al.
Children's Hospital of Philadelphia.
Pfeiffer syndrome (PS) is one of the classic autosomal dominant craniosynostosis syndromes with craniofacial anomalies and characteristic broad thumbs and big toes. We have previously mapped one of the genes for PS to the centromeric region of chromosome 8 by linkage analysis. Here we present evidence that mutations in the fibroblast growth factor receptor-1 (FGFR1) gene, which maps to 8p, cause one form of familial Pfeiffer syndrome. A C to G transversion in exon 5, predicting a proline to arginine substitution in the putative extracellular domain, was identified in all affected members of five unrelated PS families but not in any unaffected individuals. FGFR1 therefore becomes the third fibroblast growth factor receptor to be associated with an autosomal dominant skeletal disorder.
PMID: 7874169 [PubMed - indexed for MEDLINE]
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Cited by 37 PubMed Central articles
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Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.
Zhou J, Kherani F, Bardakjian TM, Katowitz J, Hughes N, Schimmenti LA, Schneider A, Young TL.
Mol Vis. 2008 Mar 24; 14:583-92. Epub 2008 Mar 24.
[Mol Vis. 2008]
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Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis.
Vieira AR, Modesto A, Meira R, Barbosa AR, Lidral AC, Murray JC.
Am J Med Genet A. 2007 Mar 15; 143(6):538-45.
[Am J Med Genet A. 2007]
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ReviewGrowth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies.
Morriss-Kay GM, Wilkie AO.
J Anat. 2005 Nov; 207(5):637-53.
[J Anat. 2005]
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