患有冠状缝早闭和TCF12突变的家族的临床谱系和结局
Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations.
作者信息
di Rocco Federico, Baujat Geneviève, Arnaud Eric, Rénier Dominique, Laplanche Jean-Louis, Daire Valérie Cormier, Collet Corinne
机构信息
Unité de Chirurgie Craniofaciale, Service de Neurochirurgie, Centre de Référence National Dysostoses Crâniofaciales, Hôpital Necker, Paris, France.
Génétique Clinique, INSERM U781, Université Paris-Descartes-Sorbonne Paris cité, Institut Imagine, Hôpital Necker, Paris, France.
出版信息
Eur J Hum Genet. 2014 Dec;22(12):1413-6. doi: 10.1038/ejhg.2014.57. Epub 2014 Apr 16.
Abstract
TCF12 mutations have been reported very recently in coronal synostosis. We report several cases of familial coronal synostosis among four families harbouring novel TCF12 mutations. We observed a broad interfamilial phenotypic spectrum with features overlapping with the Saethre-Chotzen syndrome. TCF12 molecular testing should be considered in patients with unilateral- or bilateral-coronal synostosis associated or not with syndactyly, after having excluded mutations in the TWIST1 gene and the p.Pro250Arg mutation in FGFR3.
摘要
最近有报道称TCF12突变与冠状缝早闭有关。我们报告了四个携带新型TCF12突变的家族中的几例家族性冠状缝早闭病例。我们观察到广泛的家族间表型谱，其特征与塞特雷-乔岑综合征重叠。在排除TWIST1基因的突变和FGFR3基因中的p.Pro250Arg突变后，对于伴有或不伴有并指的单侧或双侧冠状缝早闭患者，应考虑进行TCF12分子检测。
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