Mutation analysis of Crouzon syndrome in Taiwanese patients.
Crouzon syndrome is an autosomal-dominant disorder that causes premature fusion of the cranial suture. Crouzon, Pfeiffer, and Apert syndromes are caused by mutations in the extracellular, third immunoglobulin-like domain, and adjacent linker regions (exons IIIa and IIIc) of the fibroblast growth factor receptor 2 (FGFR2) gene. We screened 12 Crouzon syndrome patients for mutations in exons IIIa and IIIc of the FGFR2 gene by polymerase chain reaction (PCR) and direct sequencing. Mutations were detected in nine of 12 patients at amino acid positions 278, 281, 289, 342, and 354. More than half of the studied Crouzon patients carried a mutation resulting in either the loss or gain of a cysteine residue. A novel missense Ser354Phe substitution at exon IIIc of the human FGFR2 gene was found. According to our results, sequencing analysis of IgIII domain of the FGFR2 gene can lead to a genetic diagnosis of Crouzon syndrome.
Chang
Chin-Ping
CP
Department of Medical Research, China Medical University Hospital, Taichung, Taiwan.
Wan
Lei
L
Tsai
Chang-Hai
CH
Lee
Cheng-Chun
CC
Tsai
Fuu-Jen
FJ
D019943:Amino Acid Substitution / Q000235:genetics; D044466:Asian People / Q000235:genetics; D003394:Craniofacial Dysostosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D013624:Taiwan
D051497:Receptor, Fibroblast Growth Factor, Type 2