Article
Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications.
Brain & development - 1 Mar 2010
Shimojima Keiko, Inoue Takehiko, Hoshino Ai, Kakiuchi Satsuki, Watanabe Yoshiaki, Sasaki Masayuki, Nishimura Akira, Takeshita-Yanagisawa Akiko, Tajima Go, Ozawa Hiroshi, Kubota Masaya, Tohyama Jun, Sasaki Masayuki, Oka Akira, Saito Kayoko, Osawa Makiko, Yamamoto Toshiyuki
Abstract excerpt
Pelizaeus-Merzbacher disease (PMD; MIM#312080) is a rare X-linked recessive neurodegenerative disorder. The main cause of PMD is alterations in the proteolipid protein 1 gene (PLP1) on chromosome Xq22.2. Duplications and point mutations of PLP1 have been found in 70% and 10-25% of all patients with PMD, respectively, with a wide clinical spectrum. Since the underlining genomic abnormalities are heterogeneous in...
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