A COMMON MUTATION IN THE FIBROBLAST GROWTH-FACTOR RECEPTOR-1 GENE IN PFEIFFER-SYNDROME
A COMMON MUTATION IN THE FIBROBLAST GROWTH-FACTOR RECEPTOR-1 GENE IN PFEIFFER-SYNDROME
复制标题
普法伊弗综合征成纤维细胞生长因子受体1基因的常见突变
DOI：
10.1038/ng1194-269
复制
发表时间：
1994-11-01
期刊：
影响因子：
30.8
通讯作者：
WINTER, RM
中科院分区：
文献类型：
--
作者：
MUENKE, M;SCHELL, U;WINTER, RM
Pfeiffer综合征（PS）是一种典型的常染色体显性遗传性颅缝早闭综合征，伴有颅面畸形以及特征性的宽拇指和宽拇趾。我们先前通过连锁分析将PS的一个基因定位到8号染色体的着丝粒区域。在此我们提供证据表明，定位于8p的成纤维细胞生长因子受体 - 1（FGFR1）基因的突变导致一种家族性Pfeiffer综合征。在5个无亲缘关系的PS家族的所有受累成员中发现外显子5的一个C到G的颠换，预测在假定的细胞外结构域中脯氨酸被精氨酸替代，但在任何未受累个体中未发现此情况。因此，FGFR1成为第三个与常染色体显性骨骼疾病相关的成纤维细胞生长因子受体。
Pfeiffer syndrome (PS) is one of the classic autosomal dominant craniosynostosis syndromes with craniofacial anomalies and characteristic broad thumbs and big toes. We have previously mapped one of the genes for PS to the centromeric region of chromosome 8 by linkage analysis. Here we present evidence that mutations in the fibroblast growth factor receptor-1 (FGFR1) gene, which maps to 8p, cause one form of familiar Pfeiffer syndrome. A C to G transversion in exon 5, predicting a proline to arginine substitution in the putative extracellular domain, was identified in all affected members of five unrelated PS families but not in any unaffected individuals. FGFR1 therefore becomes the third fibroblast growth factor receptor to be associated with an autosomal dominant skeletal disorder.