title: Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome.
abstract: The present authors report the first case of Beare-Stevenson syndrome in Taiwan. The patient shares several clinical characteristics of Beare-Stevenson syndrome such as cutis gyrata, cloverleaf skull, prominent eyes, cleft palate, ear defects and a protruding umbilical stump. Molecular genetic analysis of the FGFR2 gene in this patient's DNA revealed a missense A --> G mutation on nucleotide 1303 of the FGFR2 cDNA. This mutation leads to a Tyr --> Cys substitution at residue 375 located at the N-terminal end of the transmembrane domain of FGFR2. The present results are in accordance with other previously published reports and strengthen the importance of the FGFR2 gene in the pathogenesis of Beare-Stevenson syndrome.
authors: Department of Paediatrics, Kaohsiung Chang-Gung Memorial Hospital, Kaohsiung, Taiwan. tzujouw@hotmail.com
authors: T-J
authors: TJ
authors: Wang
authors: C-B
authors: CB
authors: Huang
authors: F-J
authors: FJ
authors: Tsai
authors: J-Y
authors: JY
authors: Wu
authors: R-B
authors: RB
authors: Lai
authors: M
authors: M
authors: Hsiao
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D019943:Amino Acid Substitution; D002552:Cerebral Ventricles / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D013577:Syndrome; D013624:Taiwan; D014057:Tomography, X-Ray Computed
chemical_list: D017468:Receptors, Fibroblast Growth Factor; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051497:Receptor, Fibroblast Growth Factor, Type 2