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Deletion of the SMN1 and NAIP genes in Vietnamese patients with spinal muscular atrophy.

Authors: Nguyen Duc Bach; Ahmad Hamim Sadewa; Takeshima, Yasuhiro; Retno Sutomo; Tran Van Khanh; Ngune Thi Ngoc Dao; Nguyen Thi Hoan; +5 Authors

Deletion of the SMN1 and NAIP genes in Vietnamese patients with spinal muscular atrophy.

Abstract

The SMN1 and NAIP genes are related to the development of spinal muscular atrophy (SMA), which is characterized by degeneration of motor neurons leading to progressive muscular weakness and atrophy. The SMN1 gene is homozygously deleted in most SMA patients, and now recognized as a responsible gene for SMA. The NAIP gene is often deleted in the SMA patients with the severest form of SMA, and now considered to be a modifying factor of the severity of SMA. Our previous study of five Vietnamese SMA patients showed that the SMN1 gene deletion was detected in one patient, although the NAIP gene deletion was not detected in any patients. In this study, we analyzed 12 Vietnamese SMA patients who were not enrolled in the previous study. The SMN1 gene was homozygously deleted in six out of 12 patients, and the NAIP gene deletion was detected in five patients. Taken together with our previous data, the SMN1 gene deletion was detected in seven out of 17 Vietnamese SMA patients and the NAIP gene deletion in five out of 17 Vietnamese SMA patients. These studies suggest that the SMN1 and NAIP gene deletions are not rare in Vietnamese SMA patients. Thus, the confirmation of SMA-related gene deletion will also be a useful tool for the diagnosis of SMA in Vietnam.

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Keywords

NAIP gene, Homozygote, RNA-Binding Proteins, Nerve Tissue Proteins, SMN Complex Proteins, Survival of Motor Neuron 1 Protein, Neuronal Apoptosis-Inhibitory Protein, Muscular Atrophy, Spinal, Asian People, Vietnam, Humans, SMN1 gene, Cyclic AMP Response Element-Binding Protein, Gene Deletion, spinal muscular atrophy

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
2
Average
Average
Average
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