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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• 作者：Xianda Wei ; Hu Tan ; Pu Yang ; Rui Zhang ; Bo Tan ; Yue Zhang…
• 关键词：Spinal muscular atrophy ; Genetic counseling ; Carrier risks
• 刊名：Journal of Genetic Counseling
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：26
• 期：1
• 页码：72-78
• 全文大小：
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Human Genetics; Public Health; Clinical Psychology; Gynecology; Ethics;
• 出版者：Springer US
• ISSN：1573-3599
• 卷排序：26

文摘

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.