Evidence map›Paper›PMID 32838743›Full record

ArticleBMC medical genetics2020

Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome.

Talal J Qazi, Qiao Wu, Ailikemu Aierken, Daru Lu, Ihtisham Bukhari, Hafiz M J Hussain, Jingmin Yang, Asif Mir, Hong Qing

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
2.1field-weighted citation impact, top 12% 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

8 citing papers in PubMed, 20 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Polyamine Metabolism in Brain Health and Disease.Neuropharmacology and therapy · 2026
    Article
  5. Article
  6. Article
  7. Spermine synthase (Annals of translational medicine · 2022
    Article
  8. 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 5 institutions in 2 countries.

Talal J QaziKey Laboratory of Molecular Medicine and Biotherapy, Department of Biology, School of Life Science, Beijing Institute of Technology, Beijing, China.ORCID 0000-0002-6501-5567
Qiao WuState Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, China.ORCID 0000-0002-4657-3109
Ailikemu AierkenKey Laboratory of Molecular Medicine and Biotherapy, Department of Biology, School of Life Science, Beijing Institute of Technology, Beijing, China.
Daru LuState Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, China.
Ihtisham BukhariKey Laboratory of Helicobacter pylori and Microbiota and GI Cancer in Henan Province, Marshall Medical Research Center of Zhengzhou University, The 5th affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Hafiz M J HussainDepartment of Nephrology, Institute of Nephrology, Shanghai Ruijin Hospital, Shanghai Jiao Tong University, School of Medicine, Shanghai, China.ORCID 0000-0001-5269-8971
Jingmin YangState Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, China.ORCID 0000-0003-4749-6683
Asif MirDepartment of Biological Sciences, FBAS, International Islamic University, Islamabad, Pakistan. asif.mir@iiu.edu.pk.ORCID 0000-0003-0442-1067
Hong QingKey Laboratory of Molecular Medicine and Biotherapy, Department of Biology, School of Life Science, Beijing Institute of Technology, Beijing, China. hqing@bit.edu.cn.ORCID 0000-0003-0216-4044
Beijing Institute of Technology · CNFudan University · CNInternational Islamic University, Islamabad · PKShanghai Jiao Tong University · CNZhengzhou University · CN

Funding

Higher Education Commission, Pakistan 7028National Natural Science Foundation of China 81671268National Natural Science Foundation of China 81870844
6 · The paper itself

Abstract

backgroundLoss of function mutations in the spermine synthase gene (SMS) have been reported to cause a rare X-linked intellectual disability known as Snyder-Robinson Syndrome (SRS). Besides intellectual disability, SRS is also characterized by reduced bone density, osteoporosis and facial dysmorphism. SRS phenotypes evolve with age from childhood to adulthood.

methodsWhole exome sequencing was performed to know the causative gene/pathogenic variant. Later we confirmed the pathogenic variant through Sanger sequencing. Furthermore, we also performed the mutational analysis through HOPE SERVER and SWISS-MODEL. Also, radiographs were also obtained for affected individual to confirm the disease features.

resultsIn this article, we report the first Pakistani family consisting of three patients with SRS and a novel missense pathogenic variant in the SMS gene (c.905 C > T p.(Ser302Leu)). In addition to the typical phenotypes, one patient presented with early-onset seizures. Clinical features, genetic and in-silico analysis linked the affected patients of the family with Snyder-Robinson and suggest that this novel mutation affects the spermine synthase activity.

conclusionA novel missense variant in the SMS, c.905C > T p. (Ser302Leu), causing Snyder- Robinson Syndrome (SRS) is reported in three members of Pakistani Family.

Indexed as

AdolescentChildExome SequencingFaceFamily HealthFemaleHumansMaleMutation, MissenseOsteoporosisPakistanPedigreeSpermine SynthaseX-Linked Intellectual DisabilitySpermine SynthaseGait abnormalitiesIntellectual disabilitySMSSnyder-Robinson syndromeX-linked mental retardation

Identifiers

PMID32838743
PMCPMC7446199
OpenAlexW3080735779

What OpenQuestion holds

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Registered trials

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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.