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

被引：0

作者：

Hodes, ME

Hadjisavvas, A

Butler, IJ

Aydanian, A

Dlouhy, SR

机构：

[1] Indiana Univ, Sch Med, Dept Med & Mol Genet, Indianapolis, IN 46202 USA

[2] Cyprus Inst Neurol & Genet, Nicosia, Cyprus

[3] Univ Texas, Sch Med, Dept Neurol, Houston, TX USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1998年 / 75卷 / 05期

关键词：

X-linked; spastic paraplegia; proteolipid protein gene; Pelizaeus-Merzbacher disease; mutation;

D O I：

10.1002/(SICI)1096-8628(19980217)75:5<516::AID-AJMG11>3.0.CO;2-N

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：516 / 517

页数：2

共 2 条

[1] Pelizaeus-Merzbacher disease X-linked spastic paraplegia proteolipid protein nonsense mutation
Bond, C
Si, XL
Crisp, M
Wong, P
Paulson, GW
Boesel, CP
Dlouhy, SR
Hodes, ME
AMERICAN JOURNAL OF MEDICAL GENETICS, 1997, 71 (03): : 357 - 360
[2] Different mutations in the same codon of the proteolipid protein gene, PLP, way help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2)
Hodes, ME
Zimmerman, AW
Aydanian, A
Naidu, S
Miller, NR
Oller, JLG
Barker, B
Aleck, KA
Hurley, TD
Dlouhy, SR
AMERICAN JOURNAL OF MEDICAL GENETICS, 1999, 82 (02): : 132 - 139

← 1 →