Wilkes D, Rutland P, Pulleyn L J, Reardon W, Moss C, Ellis J P, Winter R M, Malcolm S
Mothercare Unit of Clinical Genetics and Fetal Medicine, Institute of Child Health, London, UK.
J Med Genet. 1996 Sep;33(9):744-8. doi: 10.1136/jmg.33.9.744.
Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have previously been identified in Crouzon syndrome, an autosomal dominant condition involving premature fusion of the cranial sutures. Several different missense and other mutations have been identified in Crouzon syndrome patients, clustering around the third immunoglobulin-like domain. We report here the identification of a mutation in the transmembrane region of FGFR3, common to three unrelated patients with classical Crouzon syndrome and acanthosis nigricans, a dermatological condition associated with thickening and abnormal pigmentation of the skin. The mutation within the FGFR3 transcript was determined by direct sequencing as a specific gcg to gag transversion, resulting in an amino acid substitution ala391glu within the transmembrane region.
成纤维细胞生长因子受体2（FGFR2）基因的突变先前已在克鲁宗综合征中被鉴定出来，这是一种常染色体显性疾病，涉及颅缝过早融合。在克鲁宗综合征患者中已鉴定出几种不同的错义突变和其他突变，这些突变集中在第三个免疫球蛋白样结构域周围。我们在此报告在FGFR3跨膜区域鉴定出一种突变，该突变在三名患有典型克鲁宗综合征和黑棘皮病（一种与皮肤增厚和色素沉着异常相关的皮肤病）的无亲缘关系患者中是共有的。通过直接测序确定FGFR3转录本中的突变是特定的gcg到gag颠换，导致跨膜区域内的氨基酸替换ala391glu。
