GENETIC STUDIES OF CRANIOFACIAL AND LIMB DISORDERS

我们研究了39例患有FGFR2外显子这三种情况之一的病例。 以前只在Crouzon综合征中报道的111a或111c外显子是 也出现在另外两种症状中的一种。两次插入，一次插入 1例Crouzon综合征患者外显子111a和1例外显子111c 对1例Pfeiffer综合征患者进行了观察。后一种突变具有 与已报道的同义突变相同的替代RNA剪接效应 治疗克鲁松综合症。一种错义突变V359F在一种 有一名成员患有颅缝融合症和宽指， Pfeiffer综合征的诊断，并伴有两个具有特征的成员 符合Crouzon综合征，无肢体的颅缝早闭 反常现象。血管紧张素转换酶基因表达的家族间和家族内变异 FGFR2突变提示这三种综合征，推测是 在临床上是不同的，相反，它们代表了 相关的颅突融合症和数字障碍。

We studied 39 cases with one of these three conditions for FGFR2 exon 111a or exon 111c previously reported only in Crouzon syndrome are present also in one of the other two syndromes. Two insertions, one in exon 111a in a Crouzon syndrome patient and the other in exon 111c in a Pfeiffer syndrome patient, were observed. The latter mutation has the same alternative RNA splicing effect as a reported synonymous mutation for Crouzon syndrome. A missense mutation, V359F, was detected in a family with one member with craniosynostosis and broad digits, diagnostic of Pfeiffer syndrome, and with two members with features consistent with Crouzon syndrome, craniosynostosis without limb anomalies. The inter-and intrafamilial variability in expression of FGFR2 mutations suggests that these three syndromes, presumed to be clinically distinct, are instead representative of a spectrum of related craniosynostotic and digital disorders.