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X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP).

作者信息

Hodes M E, Hadjisavvas A, Butler I J, Aydanian A, Dlouhy S R

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. 1998 Feb 17;75(5):516-7. doi: 10.1002/(sici)1096-8628(19980217)75:5<516::aid-ajmg11>3.0.co;2-n.

DOI:10.1002/(sici)1096-8628(19980217)75:5<516::aid-ajmg11>3.0.co;2-n
PMID:9489796
Abstract

A transition C506T was found in exon 4 of the proteolipid protein gene of a boy with spastic paraplegia. This mutation resulted in the substitution of phenylalanine for serine 169, which is in the third transmembrane domain of the proteolipid protein molecule. The mutation apparently arose de novo, as it was absent from his mother.

摘要

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引用本文的文献

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Insertion of mutant proteolipid protein results in missorting of myelin proteins.突变型蛋白脂蛋白的插入导致髓磷脂蛋白分选错误。
Ann Neurol. 2003 Dec;54(6):769-80. doi: 10.1002/ana.10762.