Evidence map›Paper›PMID 29739362›Full record

ArticleBMC medical genetics2018

Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family.

Liena E O Elsayed, Inaam N Mohammed, Ahlam A A Hamed, Maha A Elseed, Mustafa A M Salih, Ashraf Yahia, Rayan A Siddig, Mutaz Amin, Mahmoud Koko, Mustafa I Elbashir and 4 more

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

Article in BMC medical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
1.1field-weighted citation impact, top 22% 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

10 citing papers in PubMed, 13 citations in OpenAlex.

  1. Review
  2. PLA2G6-associated late-onset parkinsonism in a Sudanese family.Annals of clinical and translational neurology · 2023
    Article
  3. Article
  4. Article
  5. Review
  6. Novel Homozygous Missense Mutation in theFrontiers in neurology · 2020
    Article
  7. [Clinical features of infantile neuroaxonal dystrophy and PLA2G6 gene testing].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2019
    Article
  8. Article
  9. Article
  10. Review
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

14 authors at 3 institutions in 4 countries.

Liena E O ElsayedFaculty of Medicine, University of Khartoum, Qasr Street, 11111, Khartoum, Sudan. doctorlbo@hotmail.com.ORCID 0000-0001-5753-6760
Inaam N MohammedFaculty of Medicine, University of Khartoum, Qasr Street, 11111, Khartoum, Sudan.
Ahlam A A HamedFaculty of Medicine, University of Khartoum, Qasr Street, 11111, Khartoum, Sudan.
Maha A ElseedFaculty of Medicine, University of Khartoum, Qasr Street, 11111, Khartoum, Sudan.
Mustafa A M SalihDivision of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Ashraf YahiaFaculty of Medicine, University of Khartoum, Qasr Street, 11111, Khartoum, Sudan.
Rayan A SiddigFaculty of Medicine, University of Khartoum, Qasr Street, 11111, Khartoum, Sudan.
Mutaz AminFaculty of Medicine, University of Khartoum, Qasr Street, 11111, Khartoum, Sudan.
Mahmoud KokoDepartment of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan.
Mustafa I ElbashirFaculty of Medicine, University of Khartoum, Qasr Street, 11111, Khartoum, Sudan.
Muntaser E IbrahimDepartment of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan.
Alexis BriceInstitut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris VI UMR_S1127, 75013, Paris, France.
Ammar E AhmedFaculty of Medicine, University of Khartoum, Qasr Street, 11111, Khartoum, Sudan. atahmed10@gmail.com.
Giovanni StevaninInstitut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris VI UMR_S1127, 75013, Paris, France.
University of Khartoum · SDCentre National de la Recherche Scientifique · FRKing Saud University · SA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundInfantile neuroaxonal dystrophy (INAD) is a rare hereditary neurological disorder caused by mutations in PLA2G6. The disease commonly affects children below 3 years of age and presents with delay in motor skills, optic atrophy and progressive spastic tetraparesis. Studies of INAD in Africa are extremely rare, and genetic studies from Sub Saharan Africa are almost non-existent. CASE PRESENTATION: Two Sudanese siblings presented, at ages 18 and 24 months, with regression in both motor milestones and speech development and hyper-reflexia. Brain MRI showed bilateral and symmetrical T2/FLAIR hyperintense signal changes in periventricular areas and basal ganglia and mild cerebellar atrophy. Whole exome sequencing with confirmatory Sanger sequencing were performed for the two patients and healthy family members. A novel variant (NM_003560.2 c.1427 + 2 T > C) acting on a splice donor site and predicted to lead to skipping of exon 10 was found in PLA2G6. It was found in a homozygous state in the two patients and homozygous reference or heterozygous in five healthy family members.

conclusionThis variant has one very strong (loss of function mutation) and three supporting evidences for its pathogenicity (segregation with the disease, multiple computational evidence and specific patients' phenotype). Therefore this variant can be currently annotated as "pathogenic". This is the first study to report mutations in PLA2G6 gene in patients from Sudan.

Indexed as

MutationRNA Splice SitesChild, PreschoolExome SequencingFemaleGenetic Association StudiesGenetic Predisposition to DiseaseGroup VI Phospholipases A2HomozygoteHumansInfantMaleNeuroaxonal DystrophiesSiblingsSudanGroup VI Phospholipases A2PLA2G6 protein, humanRNA Splice SitesInfantile neuroaxonal dystrophyPLA2G6SudanWhole exome sequencing

Identifiers

PMID29739362
PMCPMC5941609
OpenAlexW2806439742

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.