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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
Author(s) -
Wei Xianda,
Tan Hu,
Yang Pu,
Zhang Rui,
Tan Bo,
Zhang Yue,
Mei Libin,
Liang Desheng,
Wu Lingqian
Publication year - 2017
Publication title -
journal of genetic counseling
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.867
H-Index - 52
eISSN - 1573-3599
pISSN - 1059-7700
DOI - 10.1007/s10897-016-9980-7
Subject(s) - smn1 , spinal muscular atrophy , genetic counseling , allele , sma* , genetics , meta analysis , carrier testing , medicine , biology , prenatal diagnosis , pathology , gene , fetus , pregnancy , mathematics , combinatorics
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.