Evidence map›Paper›PMID 36348459›Full record

ArticleBMC medical genomics2022

A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability.

Mutaz Amin, Cedric Vignal, Esraa Eltaraifee, Inaam N Mohammed, Ahlam A A Hamed, Maha A Elseed, Arwa Babai, Iman Elbadi, Doua Mustafa, Rayan Abubaker and 6 more

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

Article in BMC medical genomics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
1.5field-weighted citation impact, top 16% 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

5 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.

  1. Genes · 2026
    Pooled it
  2. Review
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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

16 authors at 7 institutions in 3 countries.

Mutaz AminFaculty of Medicine, Al-Neelain University, Khartoum, Sudan.
Cedric VignalUnité de Génétique Moleculaire, Departement de Genetique Médicale, APHP, Hopital Robert-Debré, 75019, Paris, France.
Esraa EltaraifeeFaculty of Medicine, University of Khartoum, Khartoum, Sudan.
Inaam N MohammedFaculty of Medicine, University of Khartoum, Khartoum, Sudan.
Ahlam A A HamedFaculty of Medicine, University of Khartoum, Khartoum, Sudan.
Maha A ElseedFaculty of Medicine, University of Khartoum, Khartoum, Sudan.
Arwa BabaiFaculty of Medicine, University of Khartoum, Khartoum, Sudan.
Iman ElbadiFaculty of Medicine, University of Khartoum, Khartoum, Sudan.
Doua MustafaFaculty of Medicine, University of Khartoum, Khartoum, Sudan.
Rayan AbubakerFaculty of Medicine, University of Khartoum, Khartoum, Sudan.
Mohamed MustafaFaculty of Medicine, University of Khartoum, Khartoum, Sudan.
Severine DrunatINSERM UMR 1141 PROTECT, Université Paris Diderot- Sorbonne Paris Cité, Paris, France.
Liena E O ElsayedDepartment of Basic Sciences, College of Medicine, Princess Nourah Bint Abdulrahman University, P.O. Box 84428, Riyadh, 11671, Saudi Arabia.
Ammar E AhmedFaculty of Medicine, University of Khartoum, Khartoum, Sudan.
Odile Boespflug-TanguyINSERM UMR 1141 PROTECT, Université Paris Diderot- Sorbonne Paris Cité, Paris, France.
Imen DorbozINSERM UMR 1141 PROTECT, Université Paris Diderot- Sorbonne Paris Cité, Paris, France. imen.dorboz@aphp.fr.
University of Khartoum · SDAssistance Publique – Hôpitaux de Paris · FRHôpital Robert-Debré · FRInserm · FRNational University · SDPrincess Nourah bint Abdulrahman University · SAUniversité Paris Cité · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe etiology of intellectual disabilities is diverse and includes both genetic and environmental factors. The genetic causes of intellectual disabilities range from chromosomal aberrations to single gene disorders. The TRAPPC9 gene has been reported to cause autosomal recessive forms of intellectual disabilities in 56 patients from consanguineous and non-consanguineous families around the world.

methodsWe analyzed two siblings with intellectual disability, microcephaly and delayed motor and speech development from a consanguineous Sudanese family. Genomic DNA was screened for mutations using NGS panel (NextSeq500 Illumina) testing 173 microcephaly associated genes in the Molecular Genetics service in Robert Debre hospital in Paris, France.

resultsA novel homozygous mutation (NM_031466.7 (TRAPPC9):c.2288dup, p. (Val764Glyfs*7) in exon 14 of TRAPPC9 gene was found in the two patients. The mutation was predicted to cause nonsense mediated decay (NSMD) using SIFT prediction tool. The variant has not been found in either gnomAD or Exac databases. Both parents were heterozygous (carriers) to the mutation.

conclusionThis is the first study to report patients with TRAPPC9-related disorder from Sub-Saharan Africa.

Indexed as

Intellectual DisabilityMicrocephalyCarrier ProteinsHumansIntercellular Signaling Peptides and ProteinsMutationPedigreeCarrier ProteinsIntercellular Signaling Peptides and ProteinsAutosomal recessiveIntellectual disabilityNovelSudanTRAPPC9

Identifiers

PMID36348459
PMCPMC9644490
OpenAlexW4308572504

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.