Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and Sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene
Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and Sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene
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DOI：
10.1002/ajmg.10049
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发表时间：
2001-11-22
期刊：
影响因子：
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通讯作者：
Fleming, J
中科院分区：
文献类型：
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作者：
Lowry, RB;Jabs, EW;Fleming, J
成纤维细胞生长因子受体3(FGFR3)中一个独特的Pro250Arg点突变最先由Bellus等人报道。[1996：NAT Genet 14：174-176]和Muenke等人随后提出的表型。[1997：Am J Hum Genet 60：555-564]，Reardon et al.[1997：J Med Genet 34：632-636]，和Graham等人。[1998：Am J Med Genet 77：322-329]这些作者强调了这种形式的冠状颅骨融合的多效性，包括短指指伴腕骨和/或颧骨结合，以及其他频率较低的异常。我们报告了一个常染色体显性遗传性冠状融合，由于Pro250Arg突变导致的椎骨和肋骨以及Sprengel肩的分段和融合异常的家庭。我们还报告了一例表型相同但没有突变的病例。(C)2001年Wiley-Liss，Inc.
A unique Pro250Arg point mutation in fibroblast growth factor receptor 3 (FGFR3) was initially reported by Bellus et al. [1996: Nat Genet 14:174-176] and the phenotype subsequently by Muenke et al. [1997: Am J Hum Genet 60:555-564], Reardon et al. [1997: J Med Genet 34:632-636], and Graham et al. [1998: Am J Med Genet 77:322-329]. These authors emphasized the pleiotropic nature of this form of coronal craniosynostosis, including brachydactyly with carpal and/ or tarsal coalitions, with other anomalies at lower frequency. We report on a family with autosomal dominant coronal synostosis, segmentation and fusion anomalies of the vertebra and ribs, and Sprengel shoulder due to the Pro250Arg mutation. We also report a single case with an identical phenotype without the mutation. (C) 2001 Wiley-Liss, Inc.