期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 158A, 期 4, 页码 713-719出版社
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.34206
关键词
Pitt-Hopkins syndrome; Rett syndrome; MECP2; TCF4; MEF2C; mutation
资金
- Australian Postgraduate Award
- National Health and Medical Research Council of Australia [346602]
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 frame-shift mutation in TCF4 was identified in a patient with a clinical diagnosis of variant RTT, in whom the clinical evolution later raised the possibility of Pitt-Hopkins syndrome. Although our results suggest that these genes are not commonly associated with RTT, we note the clinical similarity between RTT and Pitt-Hopkins syndrome, and suggest that RTT patients with no mutation identified in MECP2 be considered for molecular screening of the TCF4 gene. (C) 2012 Wiley Periodicals, Inc.
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