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Family with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia and a nonsense mutation in exon 6 of the proteolipid protein gene

✍ Scribed by Bond, Cherie; Si, Xiaoli; Crisp, Margaret; Wong, Paul; Paulson, George W.; Boesel, Carl P.; Dlouhy, Stephen R.; Hodes, M. E.

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 28 KB
Volume: 71
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970822)71:3<357::aid-ajmg19>3.0.co;2-j

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✦ Synopsis

We report on a C-to-T transition in exon 6 of the PLP gene in a male with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia. The transition changes a glutamine at amino acid residue 233 to a termination codon. This premature stop codon probably results in a truncated protein that is not functional. Six other relatives were analyzed for the mutation and two female carriers were identified. Autopsy data on one male are presented. Am.

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