Journal article
Transcription Factor 4 and Myocyte Enhancer Factor 2C mutations are not common causes of Rett syndrome
R Armani, H Archer, A Clarke, P Vasudevan, C Zweier, G Ho, S Williamson, D Cloosterman, N Yang, J Christodoulou
American Journal of Medical Genetics Part A | WILEY-BLACKWELL | Published : 2012
DOI: 10.1002/ajmg.a.34206
Abstract
The systematic screening of Rett syndrome (RTT) patients for pathogenetic sequence variations has focused on three genes that have been associated with RTT or related clinical phenotypes, namely MECP2, CDKL5, and FOXG1. More recently, it has been suggested that phenotypes associated with TCF4 and MEF2C mutations may represent a form of RTT. Here we report on the screening of the TCF4 and MEF2C genes in a cohort of 81 classical, atypical, and incomplete atypical RTT patients harboring no known mutations in MECP2, CDKL5, and FOXG1 genes. No pathogenetic sequence variations were identified in the MEF2C gene in our cohort. However, a frameshift mutation in TCF4 was identified in a patient with a..
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Awarded by National Health and Medical Research Council of Australia
Funding Acknowledgements
R.A. was supported by an Australian Postgraduate Award. The authors thank the RTT and PTHS families for their participation in the study. This research was funded by National Health and Medical Research Council of Australia project grant 346602.