TCF12 microdeletion in a 72‐year‐old woman with intellectual disability
| Autor: | Alain Czorny, M. Valduga, Virginie Roze, Aimee L. Fenwick, Andrew O.M. Wilkie, Juliette Piard, Lionel Van Maldergem, Marion Lenoir |
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| Rok vydání: | 2015 |
| Předmět: |
Pediatrics
medicine.medical_specialty TCF12 dysmorphism medicine.disease_cause Clinical Reports Craniosynostosis Exon Intellectual disability Basic Helix-Loop-Helix Transcription Factors Genetics medicine Humans Genetics (clinical) Aged Mutation Clinical Report business.industry medicine.disease craniosynostosis intellectual disability Learning disability Medical genetics Female microdeletion medicine.symptom business Gene Deletion |
| Zdroj: | American Journal of Medical Genetics. Part a |
| ISSN: | 1552-4833 1552-4825 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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