Evidence map›Paper›PMID 30972502›Full record

ArticleNeurogenetics2019

Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures.

Saud Alsahli, Ahmed Alfares, Francisco J Guzmán-Vega, Stefan T Arold, Duaa Ba-Armah, Fuad Al Mutairi

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In one paragraph

Article in Neurogenetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.1field-weighted citation impact, top 54% 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

1 citing paper in PubMed, 4 citations in OpenAlex.

  1. 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

6 authors at 4 institutions in 2 countries.

Saud AlsahliDepartment of Pediatric Neurology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.
Ahmed AlfaresDepartment of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Francisco J Guzmán-VegaDivision of Biological and Environmental Sciences and Engineering (BESE), King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Thuwal, 23955-6900, Saudi Arabia.
Stefan T AroldDivision of Biological and Environmental Sciences and Engineering (BESE), King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Thuwal, 23955-6900, Saudi Arabia.
Duaa Ba-ArmahKing Abdullah International Medical Research Center (KAIMRC), College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Fuad Al MutairiKing Abdullah International Medical Research Center (KAIMRC), College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia. almutairifu@ngha.med.sa.
King Abdullah International Medical Research Center · SAKing Abdullah University of Science and Technology · SAKing Abdulaziz Medical City · SAKing Saud bin Abdulaziz University for Health Sciences · SA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Intellectual disability poses a huge burden on the health care system, and it is one of the most common referral reasons to the genetic and child neurology clinic. Intellectual disability (ID) is genetically heterogeneous, and it is associated with several other neurological conditions. Exome sequencing is a robust genetic tool and has revolutionized the process of molecular diagnosis and novel gene discovery. Besides its diagnostic clinical value, novel gene discovery is prime in reverse genetics, when human mutations help to understand the function of a gene and may aid in better understanding of the human brain and nervous system. Using WES, we identified a biallelic truncating variant in DNAJA1 gene (c.511C>T p.(Gln171*) in a multiplex Saudi consanguineous family. The main phenotype shared between the siblings was intellectual disability and seizure disorder.

Indexed as

AllelesGenetic VariationAdolescentAdultChildConsanguinityEpilepsyExomeExome SequencingFemaleHSP40 Heat-Shock ProteinsHumansIntellectual DisabilityMaleMolecular ChaperonesMutationDNAJA1 protein, humanDNAJB1 protein, humanHSP40 Heat-Shock ProteinsMolecular ChaperonesChaperoneChaperonopathyCo-chaperoneDNAJA1Exome sequencingHsp40Intellectual disabilitySeizure disorder

Identifiers

PMID30972502
OpenAlexW2936219851

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.