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Mutation analysis of the M6b gene in patients with Rett syndrome

✍ Scribed by Narayanan, Vinodh; Olinsky, Shari; Dahle, Elizabeth; Naidu, Sakkubai; Zoghbi, Huda Y.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 22 KB
Volume: 78
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980630)78:2<165::aid-ajmg13>3.0.co;2-l

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✦ Synopsis

Human Xp22.2 has been proposed as a candidate region for the Rett syndrome (RTT) gene. M6b, a member of the proteolipid protein gene family, was mapped to Xp22.2 within one of the RTT candidate regions. In this article we describe the structure of the M6b gene, refine the physical mapping of M6b between markers DXS69E and DXS414, and present the results of mutation analysis of the M6b gene in patients with RTT. The data from mutation analysis on 55 RTT patients make it very unlikely that M6b is involved in RTT.

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