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TCF12 microdeletion in a 72‐year‐old woman with intellectual disability
Author(s) -
Piard Juliette,
Rozé Virginie,
Czorny Alain,
Lenoir Marion,
Valduga Mylène,
Fenwick Aimée L.,
Wilkie Andrew O. M.,
Maldergem Lionel Van
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37083
Subject(s) - intellectual disability , multiplex ligation dependent probe amplification , exon , genetics , mutation , biology , medicine , gene
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.