Notable Carrier Risks for Individuals Having Two Copies of SMN1 in Spinal Muscular Atrophy Families with 2-copy Alleles: Estimation Based on Chinese Meta-analysis Data

doi:10.1007/s10897-016-9980-7

Meta-Analysis

. 2017 Feb;26(1):72-78.

doi: 10.1007/s10897-016-9980-7. Epub 2016 Jul 16.

Notable Carrier Risks for Individuals Having Two Copies of SMN1 in Spinal Muscular Atrophy Families with 2-copy Alleles: Estimation Based on Chinese Meta-analysis Data

Xianda Wei¹, Hu Tan¹, Pu Yang¹, Rui Zhang¹, Bo Tan¹, Yue Zhang¹, Libin Mei¹, Desheng Liang^{2

3}, Lingqian Wu^{4

5}

Affiliations

¹ State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, China.
² State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, China. liangdesheng@sklmg.edu.cn.
³ Hunan Jiahui Genetics Hospital, 110 Xiangya Road, Changsha, Hunan, China. liangdesheng@sklmg.edu.cn.
⁴ State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, China. wulingqian@sklmg.edu.cn.
⁵ Hunan Jiahui Genetics Hospital, 110 Xiangya Road, Changsha, Hunan, China. wulingqian@sklmg.edu.cn.

PMID: 27422779
DOI: 10.1007/s10897-016-9980-7

Meta-Analysis

Notable Carrier Risks for Individuals Having Two Copies of SMN1 in Spinal Muscular Atrophy Families with 2-copy Alleles: Estimation Based on Chinese Meta-analysis Data

Xianda Wei et al. J Genet Couns. 2017 Feb.

. 2017 Feb;26(1):72-78.

doi: 10.1007/s10897-016-9980-7. Epub 2016 Jul 16.

Authors

Xianda Wei¹, Hu Tan¹, Pu Yang¹, Rui Zhang¹, Bo Tan¹, Yue Zhang¹, Libin Mei¹, Desheng Liang^{2

3}, Lingqian Wu^{4

5}

Affiliations

¹ State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, China.
² State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, China. liangdesheng@sklmg.edu.cn.
³ Hunan Jiahui Genetics Hospital, 110 Xiangya Road, Changsha, Hunan, China. liangdesheng@sklmg.edu.cn.
⁴ State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, China. wulingqian@sklmg.edu.cn.
⁵ Hunan Jiahui Genetics Hospital, 110 Xiangya Road, Changsha, Hunan, China. wulingqian@sklmg.edu.cn.

PMID: 27422779
DOI: 10.1007/s10897-016-9980-7

Abstract

Spinal muscular atrophy is an autosomal recessive neuromuscular disease mainly caused by homozygous deletion of SMN1. The 2-copy SMN1 allele may present in the families of SMA patients with homozygous deletion of SMN1, one of whose parents has two SMN1 copies. In such families, individuals having two SMN1 copies still have a chance to be "2 + 0" carriers. In this study, the risks for the parents, fetuses and other siblings having two SMN1 copies to be "2 + 0" carriers were estimated based on Chinese meta-analysis data and turned out to be rather striking. Our findings would help to optimize genetic counseling regarding spinal muscular atrophy.

Keywords: Carrier risks; Genetic counseling; Spinal muscular atrophy.

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[1] J Neurol. 2004 Sep;251(9):1089-93 - PubMed

[2] J Neurol. 2004 Sep;251(9):1089-93 - PubMed

[3] Am J Hum Genet. 1997 Jun;60(6):1411-22 - PubMed

[4] Am J Hum Genet. 1997 Jun;60(6):1411-22 - PubMed

[5] Zhonghua Er Ke Za Zhi. 2008 Dec;46(12):919-23 - PubMed

[6] Zhonghua Er Ke Za Zhi. 2008 Dec;46(12):919-23 - PubMed

[7] Eur J Hum Genet. 2010 Sep;18(9):978-84 - PubMed

[8] Eur J Hum Genet. 2010 Sep;18(9):978-84 - PubMed

[9] Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Dec;30(6):670-2 - PubMed

[10] Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Dec;30(6):670-2 - PubMed

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Notable Carrier Risks for Individuals Having Two Copies of SMN1 in Spinal Muscular Atrophy Families with 2-copy Alleles: Estimation Based on Chinese Meta-analysis Data

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Notable Carrier Risks for Individuals Having Two Copies of SMN1 in Spinal Muscular Atrophy Families with 2-copy Alleles: Estimation Based on Chinese Meta-analysis Data

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