Mutation analysis of the M6b gene in patients with Rett syndrome

Vinodh Narayanan, Shari Olinsky, Elizabeth Dahle, Sakkubai Naidu, Huda Y. Zoghbi

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)165-168
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume78
Issue number2
DOIs
StatePublished - Jun 30 1998

Fingerprint

Rett Syndrome
Mutation
Genes
Proteolipids
Proteins

Keywords

  • M6b gene
  • Rett syndrome
  • Xp22.2

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Mutation analysis of the M6b gene in patients with Rett syndrome. / Narayanan, Vinodh; Olinsky, Shari; Dahle, Elizabeth; Naidu, Sakkubai; Zoghbi, Huda Y.

In: American Journal of Medical Genetics, Vol. 78, No. 2, 30.06.1998, p. 165-168.

Research output: Contribution to journalArticle

Narayanan, Vinodh ; Olinsky, Shari ; Dahle, Elizabeth ; Naidu, Sakkubai ; Zoghbi, Huda Y. / Mutation analysis of the M6b gene in patients with Rett syndrome. In: American Journal of Medical Genetics. 1998 ; Vol. 78, No. 2. pp. 165-168.
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