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.
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.
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, China.
authors.forename: Xianda
authors.initials: X
authors.lastname: Wei
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, China.
authors.forename: Hu
authors.initials: H
authors.lastname: Tan
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, China.
authors.forename: Pu
authors.initials: P
authors.lastname: Yang
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, China.
authors.forename: Rui
authors.initials: R
authors.lastname: Zhang
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, China.
authors.forename: Bo
authors.initials: B
authors.lastname: Tan
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, China.
authors.forename: Yue
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, China.
authors.forename: Libin
authors.initials: L
authors.lastname: Mei
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, China. liangdesheng@sklmg.edu.cn.|Hunan Jiahui Genetics Hospital, 110 Xiangya Road, Changsha, Hunan, China. liangdesheng@sklmg.edu.cn.
authors.forename: Desheng
authors.initials: D
authors.lastname: Liang
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, China. wulingqian@sklmg.edu.cn.|Hunan Jiahui Genetics Hospital, 110 Xiangya Road, Changsha, Hunan, China. wulingqian@sklmg.edu.cn.
authors.forename: Lingqian
authors.initials: L
authors.lastname: Wu
mesh_terms: D000483:Alleles; D005260:Female; D018628:Gene Dosage; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000235:genetics / Q000378:metabolism*; D009154:Mutation; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics*
chemical_list: C526471:SMN1 protein, human; D055533:Survival of Motor Neuron 1 Protein
keywords: Carrier risks; Genetic counseling; Spinal muscular atrophy