Evidence map›Paper›PMID 34373539›Full record

ArticleScientific reports2021

Identification of Maturity-Onset-Diabetes of the Young (MODY) mutations in a country where diabetes is endemic.

Hessa Al-Kandari, Dalia Al-Abdulrazzaq, Lena Davidsson, Rasheeba Nizam, Sindhu Jacob, Motasem Melhem, Sumi Elsa John, Fahd Al-Mulla

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
4.0field-weighted citation impact, top 5% 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

14 citing papers in PubMed, 25 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. MODY: Strategies for a unique form of diabetes.Journal of education and health promotion · 2025
    Review
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. A case of maturity-onset diabetes of the young type 4 in Korea.Annals of pediatric endocrinology & metabolism · 2023
    Article
  14. Frontiers in genetics · 2023
    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

8 authors at 1 institution in 1 country.

Hessa Al-KandariDepartment of Population Health, Dasman Diabetes Institute, Kuwait City, Kuwait.
Dalia Al-AbdulrazzaqDepartment of Population Health, Dasman Diabetes Institute, Kuwait City, Kuwait.
Lena DavidssonDepartment of Population Health, Dasman Diabetes Institute, Kuwait City, Kuwait.
Rasheeba NizamDepartment of Genetics and Bioinformatics, Dasman Diabetes Institute, Kuwait City, Kuwait.
Sindhu JacobDepartment of Genetics and Bioinformatics, Dasman Diabetes Institute, Kuwait City, Kuwait.
Motasem MelhemDepartment of Genetics and Bioinformatics, Dasman Diabetes Institute, Kuwait City, Kuwait.
Sumi Elsa JohnDepartment of Genetics and Bioinformatics, Dasman Diabetes Institute, Kuwait City, Kuwait.
Fahd Al-MullaDepartment of Genetics and Bioinformatics, Dasman Diabetes Institute, Kuwait City, Kuwait. fahd.almulla@dasmaninstitute.org.
Dasman Diabetes Institute · KW

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic variants responsible for Maturity-Onset-Diabetes of the Young (MODY) in Kuwait were investigated. A newly established a National Referral Clinic, the Dasman Diabetes Institute (DDI-NRC), assessed forty-five members from 31 suspected MODY families by whole exome sequencing. Thirty-three of the 45 samples were independently sequenced at the DDI-NRI, Exeter University, UK ( https://www.diabetesgenes.org/ ) using targeted 21-gene panel approach. Pathogenic mutations in GCK, HNF1A, HNF1B, HNF4A, and PDX1 confirmed MODY in 7 families, giving an overall positivity rate of 22.6% in this cohort. Novel variants were identified in three families in PDX1, HNF1B, and HNF1B. In this cohort, Multiplex Ligation-dependent Probe Amplification assay did not add any value to MODY variant detection rate in sequencing negative cases. In highly selected familial autoantibody negative diabetes, known MODY genes represent a minority and 77.3% of the familial cases have yet to have a causal variant described.

Indexed as

AdolescentAdultChildChild, PreschoolDiabetes Mellitus, Type 2Endemic DiseasesExome SequencingFemaleHumansInfantMaleMutationYoung Adult

Identifiers

PMID34373539
PMCPMC8352960
OpenAlexW3189945843

What OpenQuestion holds

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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.