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

• Published in: American journal of medical genetics. Part A Vol. 167A; no. 8; pp. 1897 - 1901
• Main Authors: Piard, Juliette, Rozé, Virginie, Czorny, Alain, Lenoir, Marion, Valduga, Mylène, Fenwick, Aimée L., Wilkie, Andrew O. M., Maldergem, Lionel Van
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.08.2015; Wiley Subscription Services, Inc; John Wiley and Sons Inc
• Subjects: Aged; Basic Helix-Loop-Helix Transcription Factors - genetics; Clinical Report; Clinical Reports; craniosynostosis; dysmorphism; Female; Gene Deletion; Humans; intellectual disability; Intellectual Disability - genetics; microdeletion; TCF12; dysmorphism; craniosynostosis; microdeletion; intellectual disability; TCF12
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.37083

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.