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    ASIA unversity > 醫學暨健康學院 > 期刊論文 >  Item 310904400/6742


    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/6742


    Title: Mutation Analysis of Crouzon Syndrome in Taiwanese Patients
    Authors: Chin-Ping Chang;Lei Wan;Chang-Hai Tsai;Cheng-Chun Lee;Fuu-Jen Tsai
    Date: 2006-02
    Issue Date: 2009-12-23 14:21:58 (UTC+8)
    Publisher: Asia University
    Abstract: 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.
    Relation: JOURNAL OF CLINICAL LABORATORY ANALYSIS 20 (1): 23-26
    Appears in Collections:[醫學暨健康學院] 期刊論文

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