Rutland P, Pulleyn L J, Reardon W, Baraitser M, Hayward R, Jones B, Malcolm S, Winter R M, Oldridge M, Slaney S F
Mothercare Unit of Clinical Genetics, Institute of Child Health, London, UK.
Nat Genet. 1995 Feb;9(2):173-6. doi: 10.1038/ng0295-173.
Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been identified in Crouzon syndrome, an autosomal dominant condition causing premature fusion of the cranial sutures (craniosynostosis). A mutation in FGFR1 has been established in several families with Pfeiffer syndrome, where craniosynostosis is associated with specific digital abnormalities. We now report point mutations in FGFR2 in seven sporadic Pfeiffer syndrome patients. Six of the seven Pfeiffer syndrome patients share two missense mutations, which have also been reported in Crouzon syndrome. The Crouzon and Pfeiffer phenotypes usually breed true within families and the finding of identical mutations in unrelated individuals giving different phenotypes is a highly unexpected observation.
在克鲁宗综合征（一种导致颅缝过早融合的常染色体显性疾病）中已发现成纤维细胞生长因子受体2（FGFR2）基因突变。在几个患有 Pfeiffer 综合征的家族中已证实 FGFR1 存在突变，该综合征中颅缝早闭与特定的手指异常有关。我们现在报告7例散发型 Pfeiffer 综合征患者中 FGFR2 的点突变。7例 Pfeiffer 综合征患者中有6例存在两个错义突变，这两个突变在克鲁宗综合征中也有报道。克鲁宗和 Pfeiffer 综合征的表型通常在家族内是稳定遗传的，而在不相关个体中发现相同突变却表现出不同表型，这是一个非常意外的观察结果。
