Mutation detection in FGFR2 craniosynostosis syndromes

Five autosomal dominant craniosynostosis syndromes (Apert, Crouzon, Pfeiffer, Jackson-Weiss and Crouzon syndrome with acanthosis nigricans) result from mutations in FGFR genes. Fourteen unrelated patients with FGFR2-related craniosynostosis syndromes were screened for mutations in exons IIIa and III...

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Vydané v:Human genetics Ročník 99; číslo 2; s. 251 - 255
Hlavní autori: Hollway, G. E., Suthers, Graeme K., Haan, Eric A., Thompson, Elizabeth, David, David J., Gecz, Jozef, Mulley, John C.
Médium: Journal Article
Jazyk:English
Vydavateľské údaje: Heidelberg Springer 01.02.1997
Berlin
New York, NY
Predmet:
Adult
Biological and medical sciences
Craniosynostoses - enzymology
Craniosynostoses - genetics
Diseases of the osteoarticular system
Female
Humans
Malformations and congenital and or hereditary diseases involving bones. Joint deformations
Medical sciences
Mutation
Receptor Protein-Tyrosine Kinases - genetics
Receptor, Fibroblast Growth Factor, Type 2
Receptors, Fibroblast Growth Factor - genetics
Syndrome
Human
Fibroblast growth factor
Nervous system diseases
Craniosynostosis
Diseases of the osteoarticular system
Dysostosis
Genetic disease
Gene
Skull disease
Phenotype variation
Genetics
Mutation
Biological receptor
ISSN:0340-6717, 1432-1203
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Popis
Shrnutí:Five autosomal dominant craniosynostosis syndromes (Apert, Crouzon, Pfeiffer, Jackson-Weiss and Crouzon syndrome with acanthosis nigricans) result from mutations in FGFR genes. Fourteen unrelated patients with FGFR2-related craniosynostosis syndromes were screened for mutations in exons IIIa and IIIc of FGFR2. Eight of the nine mutations found have been reported, but one patient with Pfeiffer syndrome was found to have a novel G-to-C splice site mutation at-1 relative to the start of exon IIIc. Of those mutations previously reported, the mutation C1205G was unusual in that it was found in two related patients, one with clinical features of Pfeiffer syndrome and the other having mild Crouzon syndrome. This degree of phenotypic variability shows that the clinical features associated with a specific mutation do not necessarily breed true.
Bibliografia:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:0340-6717
1432-1203
DOI:10.1007/s004390050348