Family with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia and a nonsense mutation in exon 6 of the proteolipid protein gene.
作者信息
Bond C, Si X, Crisp M, Wong P, Paulson G W, Boesel C P, Dlouhy S R, Hodes M E
机构信息
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202-5251, USA.
出版信息
Am J Med Genet. 1997 Aug 22;71(3):357-60.
PMID:9268109
Abstract
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.
摘要
相似文献
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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.
Am J Med Genet. 1997 Aug 22;71(3):357-60.
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Novel nonsense proteolipid protein gene mutation as a cause of X-linked spastic paraplegia in twin males.
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X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.X连锁痉挛性截瘫和佩利措伊斯-梅茨巴赫病是位于蛋白脂质蛋白基因座的等位基因疾病。
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Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene.
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Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus.
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A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease.在一个患有佩利措伊斯-梅茨巴赫病的德国家庭中，蛋白脂质蛋白（PLP）基因出现了一种新的突变。
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Girl with signs of Pelizaeus-Merzbacher disease heterozygous for a mutation in exon 2 of the proteolipid protein gene.
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[Pelizaeus-Merzbacher disease].[佩利措伊斯-梅茨巴赫病]
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