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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.

Original publication

DOI

10.1002/ajmg.a.37083

Type

Journal article

Journal

Am J Med Genet A

Publication Date

08/2015

Volume

167A

Pages

1897 - 1901

Keywords

TCF12, craniosynostosis, dysmorphism, intellectual disability, microdeletion, Aged, Basic Helix-Loop-Helix Transcription Factors, Female, Gene Deletion, Humans, Intellectual Disability