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Novel non-identical MECP2 mutations in Rett syndrome family: A rare presentation

✍ Scribed by Rajni Khajuria; Neerja Gupta; Savita Sapra; Sheffali Gulati; Manju Ghosh; Veena Kalra; Madhulika Kabra


Book ID
113499012
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
312 KB
Volume
34
Category
Article
ISSN
0387-7604

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Novel de novo nonsense mutation of MECP2
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Because of the recent identification of several mutations of methyl-CpG-binding protein 2 (MECP2) in patients with Rett syndrome (RTT), a patient with suspected RTT from an autism clinic was screened for mutations. She was found to have a novel heterozygous nonsense mutation, 129C>T (Q19X), which le