TCF12 microdeletion in a 72‐year‐old woman with intellectual disability |
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| Authors: | Juliette Piard Virginie Rozé Alain Czorny Marion Lenoir Mylène Valduga Aimée L. Fenwick Andrew O. M. Wilkie Lionel Van Maldergem |
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| Affiliation: | 1. Centre de génétique humaine, Université de Franche‐Comté, Besan?on, France;2. Laboratoire de génétique, histologie et biologie de la reproduction, Université de Franche‐Comté, Besan?on, France;3. Service de neurochirurgie, Université de Franche‐Comté, Besan?on, France;4. Correspondence to:;5. Dr Juliette Piard, Centre de Génétique Humaine, Centre‐hospitalo‐universitaire, Pavillon Saint‐Paul, 2 place Saint‐Jacques, 25000 Besan?on, France;6. E‐mail:;7. Service de radiologie pédiatrique, Université de Franche‐Comté, Besan?on, France;8. Laboratoire de génétique, Université de Nancy, Nancy, France;9. Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford, UK |
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| 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. © 2015 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc. |
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| Keywords: | TCF12 microdeletion intellectual disability craniosynostosis dysmorphism |
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