Identification of a novel missense mutation of the SMNT gene in two siblings with spinal muscular atrophy

被引：0

作者：

Wang C.H. ^{[1
,2
,3
]}

Papendick B.D. ^{[1
]}

Bruinsma P. ^{[3
]}

Day J.K. ^{[3
]}

机构：

[1] Departments of Psychiatry and Neurology, University of Missouri, Columbia

[2] Department of Biochemistry, University of Missouri, Columbia

[3] Genetic Area Program, University of Missouri, Columbia

来源：

Neurogenetics | 1998年 / 1卷 / 4期

关键词：

Missense mutation; SMN gene; Spinal muscular atrophy;

D O I：

10.1007/s100480050040

中图分类号：

学科分类号：

摘要：

Spinal muscular atrophy (SMA) is a motor neuron disease caused by mutations in the telomeric copy of the survival motor neuron (SMNT) gene. Over 90% of SMA patients harbor a deletion of SMNT, but relatively few base-pair mutations have been reported. We report here a novel G279C mutation with a G to T transversion on exon 7 (nucleotide position 868) of SMNT. Another missense mutation has been reported recently on position 869. The fact that two mutations on the same codon both result in SMA suggest a functional significance of this amino acid within the SMN protein. © Springer-Verlag 1998.

引用

页码：273 / 276

页数：3

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