Piard Juliette, Rozé Virginie, Czorny Alain, Lenoir Marion, Valduga Mylène, Fenwick Aimée L, Wilkie Andrew O M, Maldergem Lionel Van
Centre de génétique humaine, Université de Franche-Comté, Besançon, France.
Laboratoire de génétique, histologie et biologie de la reproduction, Université de Franche-Comté, Besançon, France.
Am J Med Genet A. 2015 Aug;167A(8):1897-901. doi: 10.1002/ajmg.a.37083. Epub 2015 Apr 13.
Heterozygous mutations in TCF12 were recently identified as an important cause of craniosynostosis. In the original series, 14% of patients with a mutation in TCF12 had significant developmental delay or learning disability. We report on the first case of TCF12 microdeletion, detected by array-comparative genomic hybridization, in a 72-year-old patient presenting with intellectual deficiency and dysmorphism. Multiplex ligation-dependent probe amplification analysis indicated that exon 19, encoding the functionally important basic helix-loop-helix domain, was included in the deleted segment in addition to exon 20. We postulate that the TCF12 microdeletion is responsible for this patient's intellectual deficiency and facial phenotype.
最近发现，TCF12基因的杂合突变是导致颅缝早闭的一个重要原因。在最初的系列研究中，14%的TCF12基因突变患者存在明显的发育迟缓或学习障碍。我们报告了首例通过阵列比较基因组杂交检测到的TCF12基因微缺失病例，该病例为一名72岁智力缺陷和畸形患者。多重连接依赖探针扩增分析表明，除了第20外显子，编码功能重要的碱性螺旋-环-螺旋结构域的第19外显子也包含在缺失片段中。我们推测，TCF12基因微缺失是该患者智力缺陷和面部表型的原因。
