TCF12 microdeletion in a 72-year-old woman with intellectual disability.

Am J Med Genet A 2015 Aug 13;167A(8):1897-901. Epub 2015 Apr 13.

Centre de génétique humaine, Université de Franche-Comté, Besançon, France.

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.

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http://dx.doi.org/10.1002/ajmg.a.37083DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4654244PMC
August 2015
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