TCF12 microdeletion in a 72‐year‐old woman with intellectual disability. (13th April 2015)

• Record Type: Journal Article
• Authors: Piard, Juliette; Rozé, Virginie; Czorny, Alain; Lenoir, Marion; Valduga, Mylène; Fenwick, Aimée L.; Wilkie, Andrew O. M.; Maldergem, Lionel Van
• Is Part Of: American journal of medical genetics. Volume 167:Number 8(2015:Aug.)
• Page Start: 1897
• Page End: 1901
• Publication Date: 2015-04-13
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.37083
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga37083-sec-0001" sec-type="section"> <p>Heterozygous mutations in <italic>TCF12</italic> were recently identified as an important cause of craniosynostosis. In the original series, 14% of patients with a mutation in <italic>TCF12</italic> had significant developmental delay or learning disability. We report on the first case of <italic>TCF12</italic> 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 <italic>TCF12</italic> microdeletion is responsible for this patient's intellectual deficiency and facial phenotype. © 2015 The Authors. <italic>American Journal of Medical Genetics Part A</italic> Published by Wiley Periodicals, Inc.</p> </sec> </abstract>