Literature DB >> 27422779

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 Liang2,3, Lingqian Wu4,5.   

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.

Entities:  

Keywords:  Carrier risks; Genetic counseling; Spinal muscular atrophy

Mesh：

Substances：

Year:  2016        PMID： 27422779     DOI： 10.1007/s10897-016-9980-7

Source DB:  PubMed          Journal:  J Genet Couns        ISSN： 1059-7700            Impact factor:   2.537


  31 in total

1.  Carrier incidence for spinal muscular atrophy in southern Chinese.

Authors:  Vivian Chan; Ben Yip; Irene Yam; Patrick Au; Che-Kit Lin; Virginia Wong; Tai-Kwong Chan
Journal:  J Neurol       Date:  2004-09       Impact factor: 4.849

2.  Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population.

Authors:  Zhu Sheng-Yuan; Fu Xiong; Ya-Jun Chen; Ti-Zhen Yan; Jian Zeng; Liang Li; Ya-Ni Zhang; Wan-Qun Chen; Xin-Hua Bao; Cheng Zhang; Xiang-Min Xu
Journal:  Eur J Hum Genet       Date:  2010-05-05       Impact factor: 4.246

3.  Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number.

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Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025

4.  Classification of spinal muscular atrophies.

Authors:  J Pearn
Journal:  Lancet       Date:  1980-04-26       Impact factor: 79.321

5.  Identification of bidirectional gene conversion between SMN1 and SMN2 by simultaneous analysis of SMN dosage and hybrid genes in a Chinese population.

Authors:  Tai-Heng Chen; Ching-Cherng Tzeng; Chun-Chi Wang; Shou-Mei Wu; Jan-Gowth Chang; San-Nan Yang; Chih-Hsing Hung; Yuh-Jyh Jong
Journal:  J Neurol Sci       Date:  2011-06-25       Impact factor: 3.181

6.  [Carrier screening for spinal muscular atrophy in 4719 pregnant women in Shanghai region].

Authors:  Bo Gong; Li Zhang; Ya-ping Hou; He-yu Hu; Hai-chuan Li; Mei-yu Tan; Jin Chen; Jing Yu
Journal:  Zhonghua Yi Xue Yi Chuan Xue Za Zhi       Date:  2013-12

7.  New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations.

Authors:  Shuji Ogino; Robert B Wilson; Bert Gold
Journal:  Eur J Hum Genet       Date:  2004-12       Impact factor: 4.246

8.  [Molecular analysis of survival motor neuron gene in 338 suspicious children patients with spinal muscular atrophy].

Authors:  Fang Song; Yu-jin Qu; Li-ping Zou; Li-wen Wang; Mei-juan Long; Xu Wang; Yan-ling Yang; Qian Chen; Hong Wang; Yu-wei Jin
Journal:  Zhonghua Er Ke Za Zhi       Date:  2008-12

9.  Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls.

Authors:  Ping Fang; Liang Li; Jian Zeng; Wan-Jun Zhou; Wei-Qing Wu; Ze-Yan Zhong; Ti-Zhen Yan; Jian-Sheng Xie; Jing Huang; Li Lin; Ying Zhao; Xiang-Min Xu
Journal:  BMC Musculoskelet Disord       Date:  2015-02-07       Impact factor: 2.362

10.  Differences in SMN1 allele frequencies among ethnic groups within North America.

Authors:  B C Hendrickson; C Donohoe; V R Akmaev; E A Sugarman; P Labrousse; L Boguslavskiy; K Flynn; E M Rohlfs; A Walker; B Allitto; C Sears; T Scholl
Journal:  J Med Genet       Date:  2009-07-21       Impact factor: 6.318
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  2 in total

1.  Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots.

Authors:  Yogik Onky Silvana Wijaya; Jamiyan Purevsuren; Nur Imma Fatimah Harahap; Emma Tabe Eko Niba; Yoshihiro Bouike; Dian Kesumapramudya Nurputra; Mawaddah Ar Rochmah; Cempaka Thursina; Sunartini Hapsara; Seiji Yamaguchi; Hisahide Nishio; Masakazu Shinohara
Journal:  Int J Neonatal Screen       Date:  2020-05-29

2.  Detection of Spinal Muscular Atrophy Using a Duplexed Real-Time PCR Approach With Locked Nucleic Acid-Modified Primers.

Authors:  Jianyan Pan; Chunhua Zhang; Yanling Teng; Sijing Zeng; Siyi Chen; Desheng Liang; Zhuo Li; Lingqian Wu
Journal:  Ann Lab Med       Date:  2020-08-25       Impact factor: 3.464
  2 in total

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