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01-02-2017 | Original Research

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

Authors: Xianda Wei, Hu Tan, Pu Yang, Rui Zhang, Bo Tan, Yue Zhang, Libin Mei, Desheng Liang, Lingqian Wu

Published in: Journal of Genetic Counseling | Issue 1/2017

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.

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Title: 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
Authors: Xianda Wei
Hu Tan
Pu Yang
Rui Zhang
Bo Tan
Yue Zhang
Libin Mei
Desheng Liang
Lingqian Wu
Publication date: 01-02-2017
Publisher: Springer US
Published in: Journal of Genetic Counseling / Issue 1/2017
Print ISSN: 1059-7700
Electronic ISSN: 1573-3599
DOI: https://doi.org/10.1007/s10897-016-9980-7

At a glance: The STEP trials

Springer Medicine

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

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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