Current Aspects in the Molecular Genetics and Diagnostics of Spinal Muscular Atrophy
Proximal spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations of the SMN1 gene on 5q13. It leads to progressive muscle wasting and paralysis as a result of degeneration of anterior horn cells of the spinal cord. The most frequent mutation is biallelic de...
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| Format: | Article |
| Language: | English |
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Elsevier
2005-09-01
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| Series: | Taiwanese Journal of Obstetrics & Gynecology |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S102845590960142X |
| _version_ | 1819180815252193280 |
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| author | Shu-Chin Chien Yi-Ning Su |
| author_facet | Shu-Chin Chien Yi-Ning Su |
| author_sort | Shu-Chin Chien |
| collection | DOAJ |
| description | Proximal spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations of the SMN1 gene on 5q13. It leads to progressive muscle wasting and paralysis as a result of degeneration of anterior horn cells of the spinal cord. The most frequent mutation is biallelic deletion of exon 7 of the SMN1 gene. About 5-6% of SMA patients present compound heterozygosity with a point mutation on one allele and deletion on the other; the remaining cases are likely to be related to non-5q-linked defects. Introduction of a quantitative polymerase chain reaction-based test further enhances the diagnostic potential by increasing the detection rate of cases with the biallelic exon 7 deletion in SMN1 and point mutations. Due to the higher prevalence of SMA than other autosomal recessive disorders and lack of efficient medical treatment, accurate identification of SMA carriers in general populations is much more important to reduce the social and financial burden of SMA. |
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| format | Article |
| id | doaj.art-636cb58b52ad41958967dacb66da3ae8 |
| institution | Directory Open Access Journal |
| issn | 1028-4559 |
| language | English |
| last_indexed | 2024-12-22T22:20:20Z |
| publishDate | 2005-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Taiwanese Journal of Obstetrics & Gynecology |
| spelling | doaj.art-636cb58b52ad41958967dacb66da3ae82022-12-21T18:10:41ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592005-09-0144320120810.1016/S1028-4559(09)60142-XCurrent Aspects in the Molecular Genetics and Diagnostics of Spinal Muscular AtrophyShu-Chin ChienYi-Ning SuProximal spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations of the SMN1 gene on 5q13. It leads to progressive muscle wasting and paralysis as a result of degeneration of anterior horn cells of the spinal cord. The most frequent mutation is biallelic deletion of exon 7 of the SMN1 gene. About 5-6% of SMA patients present compound heterozygosity with a point mutation on one allele and deletion on the other; the remaining cases are likely to be related to non-5q-linked defects. Introduction of a quantitative polymerase chain reaction-based test further enhances the diagnostic potential by increasing the detection rate of cases with the biallelic exon 7 deletion in SMN1 and point mutations. Due to the higher prevalence of SMA than other autosomal recessive disorders and lack of efficient medical treatment, accurate identification of SMA carriers in general populations is much more important to reduce the social and financial burden of SMA.http://www.sciencedirect.com/science/article/pii/S102845590960142Xcarriermolecular diagnosisSMNspinal muscular atrophy |
| spellingShingle | Shu-Chin Chien Yi-Ning Su Current Aspects in the Molecular Genetics and Diagnostics of Spinal Muscular Atrophy Taiwanese Journal of Obstetrics & Gynecology carrier molecular diagnosis SMN spinal muscular atrophy |
| title | Current Aspects in the Molecular Genetics and Diagnostics of Spinal Muscular Atrophy |
| title_full | Current Aspects in the Molecular Genetics and Diagnostics of Spinal Muscular Atrophy |
| title_fullStr | Current Aspects in the Molecular Genetics and Diagnostics of Spinal Muscular Atrophy |
| title_full_unstemmed | Current Aspects in the Molecular Genetics and Diagnostics of Spinal Muscular Atrophy |
| title_short | Current Aspects in the Molecular Genetics and Diagnostics of Spinal Muscular Atrophy |
| title_sort | current aspects in the molecular genetics and diagnostics of spinal muscular atrophy |
| topic | carrier molecular diagnosis SMN spinal muscular atrophy |
| url | http://www.sciencedirect.com/science/article/pii/S102845590960142X |
| work_keys_str_mv | AT shuchinchien currentaspectsinthemoleculargeneticsanddiagnosticsofspinalmuscularatrophy AT yiningsu currentaspectsinthemoleculargeneticsanddiagnosticsofspinalmuscularatrophy |