GENETIC STUDIES OF CRANIOFACIAL AND LIMB DISORDERS

颅面和肢体疾病的遗传学研究

• 批准号: 6297479
• 负责人: Ethylin Wang Jabs
• 金额: $ 0.23万
• 依托单位: JOHNS HOPKINS UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1998
• 资助国家: 美国
• 起止时间: 1998-12-01 至 1999-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6297479
• 关键词: autosomal dominant trait; child (0-11); clinical research; congenital skeletal disorder; craniofacial dysostosis; craniosynostosis; family genetics; fibroblast growth factor; gene mutation; genetic disorder diagnosis; genotype; growth factor receptors; human genetic material tag; human subject; orphan disease /drug; phenotype; syndrome

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.

我们研究了39例FGFR2外显子具有这三种情况之一的病例