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De novo insG619 mutation in PAX2 gene in a Japanese patient with papillorenal syndrome

✍ Scribed by Keiko Yoshimura; Shigeo Yoshida; Yoko Yamaji; Aiko Komori; Ayako Yoshida; Ken Hatae; Toshiaki Kubota; Tatsuro Ishibashi


Book ID
116200125
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
213 KB
Volume
139
Category
Article
ISSN
0002-9394

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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