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First Report of a De Novo Mutation atSLC20A2in a Patient with Brain Calcification

โœ Scribed by Ferreira, J. B.; Pimentel, L.; Keasey, M. P.; Lemos, R. R.; Santos, L. M.; Oliveira, M. F.; Santos, S.; Jensen, N.; Teixeira, K.; Pedersen, L.; Rocha, C. R.; Dias da Silva, M. R.; Oliveira, J. R. M.


Book ID
127107065
Publisher
Humana Press Inc
Year
2014
Tongue
English
Weight
384 KB
Volume
54
Category
Article
ISSN
0895-8696

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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