Abstract |
Crouzon craniofacial dysostosis (CFD) is an autosomal dominant form of craniosynostosis characterized by an abnormal skull shape, with hypertelorism, prominent eyes and midfacial retrusion. Recently, a gene for CFD has been mapped to chromosome 10q25-q26 and mutations in exon B of the fibroblast growth factor receptor 2 (FGFR2) gene have been identified. Here, we report the mapping of a CFD gene to chromosome 10q by close linkage to probe AFMa197wb1 at locus D10 S1483 in six unrelated families of French ancestry (Zmax = 4.69 at theta = 0) and provide additional evidence of genetic homogeneity of this condition. In addition, we report a novel mutation in exon B of the FGFR2 gene (Cys 342 Trp) in familial CFD and describe recurrent mutations at codon 342 as a particularly frequent event in CFD. Since mutations in the extracellular domain of the FGFR2 gene are observed in a few clinically distinct craniosynostosis syndromes (CFD, Jackson-Weiss, Apert and Pfeiffer), the present study gives support to the variable clinical expression of FGFR2 mutations in humans.
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Authors | H W Ma, E Lajeunie, M Le Merrer, N de Parseval, F Serville, J Weissenbach, A Munnich, D Renier |
Journal | Human genetics
(Hum Genet)
Vol. 96
Issue 6
Pg. 731-5
(Dec 1995)
ISSN: 0340-6717 [Print] Germany |
PMID | 8522336
(Publication Type: Journal Article)
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Chemical References |
- Codon
- Receptors, Fibroblast Growth Factor
- FGFR2 protein, human
- Receptor Protein-Tyrosine Kinases
- Receptor, Fibroblast Growth Factor, Type 2
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Topics |
- Chromosome Mapping
- Chromosomes, Human, Pair 10
- Codon
(genetics)
- Craniofacial Dysostosis
(genetics)
- Exons
- Family
- Female
- France
- Genes, Dominant
- Genetic Linkage
- Genotype
- Humans
- Male
- Pedigree
- Point Mutation
- Receptor Protein-Tyrosine Kinases
(genetics)
- Receptor, Fibroblast Growth Factor, Type 2
- Receptors, Fibroblast Growth Factor
(genetics)
- Recombination, Genetic
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