Evidence map›Paper›PMID 27422779›Full record

SynthesisJournal of genetic counseling2017

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

Open access · bronzeAbstract readMeta-Analysis
PubMed Publisher
In one paragraph

Synthesis in Journal of genetic counseling, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.2field-weighted citation impact, top 41% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Article
  3. Assessment of Spinal Muscular Atrophy Carrier Status by DeterminingInternational journal of neonatal screening · 2020
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 2 institutions in 1 country.

Xianda WeiState Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, China.
Hu TanState Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, China.
Pu YangState Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, China.
Rui ZhangState Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, China.
Bo TanState Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, China.
Yue ZhangState Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, China.
Libin MeiState Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, China.
Desheng LiangState Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, China. liangdesheng@sklmg.edu.cn.
Lingqian WuState Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, China. wulingqian@sklmg.edu.cn.
Central South University · CNXiangya Hospital Central South University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

Gene DosageGenetic Predisposition to DiseaseHeterozygoteMutationAllelesFemaleHumansMaleMuscular Atrophy, SpinalSurvival of Motor Neuron 1 ProteinSMN1 protein, humanSurvival of Motor Neuron 1 ProteinCarrier risksGenetic counselingSpinal muscular atrophy

Identifiers

PMID27422779
OpenAlexW2462998898

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.