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Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: Report of two novel mutations

✍ Scribed by Das, Dhanjit Kumar; Raha, Sarbani; Sanghavi, Daksha; Maitra, Anurupa; Udani, Vrajesh


Book ID
118276757
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
735 KB
Volume
515
Category
Article
ISSN
0378-1119

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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