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Large deletions within the spinal muscular atrophy gene region in a patient with spinal muscular atrophy type 3

Wei Wei Chunyue Chen Wenting Liu Zhenfang Du Xiaoling Chen Xianning Zhang

中国神经再生研究（英文版）2011，Vol.6Issue(23)：1810-1813,4.

中国神经再生研究（英文版）2011，Vol.6Issue(23)：1810-1813,4.DOI:10.3969/j.issn.1673-5374.2011.23.009

Large deletions within the spinal muscular atrophy gene region in a patient with spinal muscular atrophy type 3

Wei Wei ¹Chunyue Chen ²Wenting Liu ¹Zhenfang Du ²Xiaoling Chen ³Xianning Zhang³

作者信息

1. Department of Orthopedics, Hangzhou Red Cross Hospital, Hangzhou 310002, Zhejiang Province, China
2. Zhejiang University-Adinovo Center for Genetic and Genomic Medicine, Department of Biochemistry & Genetics, National Education Base for Basic Medical Science
3. Zhejiang University-Adinovo Center for Genetic and Genomic Medicine, Department of Biochemistry & Genetics, National Education Base for Basic Medical Sciences, Institute of Cell Biology, Zhejiang University School of Medicine, Hangzhou 310058, Zhejiang Pr
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摘要

Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration and loss of anterior horn cells in the spinal cord and brain stem nuclei, leading to progressive limb and trunk paralysis and muscular atrophy. Depending on the age of onset and maximum muscular function achieved, SMA is recognized as SMA1, SMA2, SMA3 or SMA4, and most patients have a deletion or truncation of the survival motor neuron 1 (SMN1) gene. In this report, we present a patient with a mild SMA phenotype, SMA3, and define his genetic abnormality. Tetra-primer amplification refractory mutation system PCR combined with restriction fragment length polymorphism analysis and array comparative genomic hybridization were used to determine the genetic variations in this patient. A 500 kb deletion in chromosome 5q13.2, including homozygous deletion of neuronal apoptosis inhibitory protein, and heterozygous deletion of occludin and B-double prime 1 was identified. This SMA region deletion did not involve SMN, indicating that SMN was likely to function normally. The phenotype was dependent of the large deletion and neuronal apoptosis inhibitory protein, occludin and B-double prime 1 may be candidate genes for SMA3.

关键词

spinal muscular atrophy type 3/neuronal apoptosis inhibitory protein/occludin/B-double primel 1/deletion

Key words

spinal muscular atrophy type 3/neuronal apoptosis inhibitory protein/occludin/B-double primel 1/deletion

引用本文复制引用

Wei Wei,Chunyue Chen,Wenting Liu,Zhenfang Du,Xiaoling Chen,Xianning Zhang..Large deletions within the spinal muscular atrophy gene region in a patient with spinal muscular atrophy type 3[J].中国神经再生研究（英文版）,2011,6(23):1810-1813,4.

基金项目

the Founda-tion of Science and Tech-nology Department of Zhe-jiang Province,China,No.2007C33049 （）

Fund for Fostering Talents in Basic Science of the National Natural Science Foundation of China,No.J0710043 （）

中国神经再生研究（英文版）

OACSCDSCI

ISSN：1673-5374

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