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A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome


Muenke, Maximilian; Schell, Ute; Hehr, Andreas; Robin, Nathaniel H; Losken, H Wolfgang; Schinzel, Albert; Pulleyn, Louise J; Rutland, Paul; Reardon, William; Malcolm, Sue; Winter, Robin M (1994). A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nature Genetics, 8(3):269-274.

Abstract

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.

Abstract

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.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Uncontrolled Keywords:Genetics, Genetics (clinical), FGFR1
Language:English
Date:1 November 1994
Deposited On:27 Sep 2023 14:35
Last Modified:29 Apr 2024 01:40
Publisher:Nature Publishing Group
ISSN:1061-4036
OA Status:Closed
Publisher DOI:https://doi.org/10.1038/ng1194-269
PubMed ID:7874169
Other Identification Number:Corpus ID: 40033932