title: TCF12 microdeletion in a 72-year-old woman with intellectual disability.
abstract: 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.
authors: Centre de génétique humaine, Université de Franche-Comté, Besançon, France.
authors: Juliette
authors: J
authors: Piard
authors: Laboratoire de génétique, histologie et biologie de la reproduction, Université de Franche-Comté, Besançon, France.
authors: Virginie
authors: V
authors: Rozé
authors: Service de neurochirurgie, Université de Franche-Comté, Besançon, France.
authors: Alain
authors: A
authors: Czorny
authors: Service de radiologie pédiatrique, Université de Franche-Comté, Besançon, France.
authors: Marion
authors: M
authors: Lenoir
authors: Laboratoire de génétique, Université de Nancy, Nancy, France.
authors: Mylène
authors: M
authors: Valduga
authors: Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford, UK.
authors: Aimée L
authors: AL
authors: Fenwick
authors: Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford, UK.
authors: Andrew O M
authors: AO
authors: Wilkie
authors: Centre de génétique humaine, Université de Franche-Comté, Besançon, France.
authors: Lionel Van
authors: LV
authors: Maldergem
mesh_terms: D000368:Aged; D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; C073366:TCF12 protein, human
keywords: TCF12; craniosynostosis; dysmorphism; intellectual disability; microdeletion