Evidence map›Paper›PMID 35527687›Full record

ArticleJournal of clinical laboratory analysis2022

Novel combined UGT1A1 mutations in Crigler Najjar Syndrome type I.

Nawel Abdellaoui, Balkiss Abdelmoula, Rania Abdelhedi, Najla Kharrat, Mouna Tabebi, Ahmed Rebai, Nouha Bouayed Abdelmoula

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

Article in Journal of clinical laboratory analysis, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
3.0field-weighted citation impact, top 9% 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

2 citing papers in PubMed, 8 citations in OpenAlex.

  1. Review
  2. Novel combined UGT1A1 mutations in Crigler Najjar Syndrome type I.Journal of clinical laboratory analysis · 2022
    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

7 authors at 2 institutions in 2 countries.

Nawel AbdellaouiGenomics of Signalopathies at the service of Medicine, Medical University of Sfax, Sfax, Tunisia.ORCID https://orcid.org/0000-0002-6205-5811
Balkiss AbdelmoulaGenomics of Signalopathies at the service of Medicine, Medical University of Sfax, Sfax, Tunisia.
Rania AbdelhediLaboratory of Screening Cellular and Molecular Process, Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.
Najla KharratLaboratory of Screening Cellular and Molecular Process, Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.
Mouna TabebiDepartment of Biomedical and Clinical Sciences (BKV), Linköping University, Linköping, Sweden.
Ahmed RebaiLaboratory of Screening Cellular and Molecular Process, Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.
Nouha Bouayed AbdelmoulaGenomics of Signalopathies at the service of Medicine, Medical University of Sfax, Sfax, Tunisia.ORCID https://orcid.org/0000-0002-0102-4405
University of Sfax · TNLinköping University · SE

Funding

the Ministry of Higher Education and Scientific ResearchTunisian government program "Federated research project" PRF2017D3P1
6 · The paper itself

Abstract

backgroundUridine diphosphate-glucuronosyl transferase 1A1 (UGT1A1), which is the major UGT1 gene product, is located on chromosome 2q37. The expression of UGT1A1 is relatively managed by a polymorphic dinucleotide repeat inside the promoter TATA box consisting of 5-8 copies of a TA repeat. A (TA) 6TAA is considered as the wild type. The A (TA) 7TAA allele has been identified as the most frequent allele in the Caucasian populations while A (TA) 8TAA allele remains the rarest allele worldwide in North Africa, including the Arab populations.

methodsThe spectrum of UGT1A1 genetic mutations in seventeen Tunisian children affected by persistent unconjugated hyperbilirubinemias is represented in addition to their relatives, notably parents, sisters, and brothers. Tunisian children, from 16 unrelated families as well as a 17

resultsThe frequencies of genotypes in CN1 patients were as follows (TA) (7/7) (12/17: 70.6%) and (TA) (8/8) (5/17: 29.4%). All patients harbored the c.1070A>G mutation of exon 3 (UGT1A1*16) in the homozygous state. Among relatives of our patients (n = 16), who were all heterozygotes for UGT1A1*16, 13/16 (81.25%) had a heterozygous state for UGT1A1∗1/UGT1A1∗28 or (TA) (6/7) and, 18.75% (3/16) were heterozygous for UGT1A1∗28/UGT1A1∗37 or (TA) (7/8) of the promoter polymorphisms.

conclusionUGT1A1*16 accompanied with UGT1A1*28 or UGT1A1*37 had a specific geographic and ethnic distribution for CN pathogenesis in this Tunisian cohort.

Indexed as

Crigler-Najjar SyndromeChildExonsGenotypeGlucuronosyltransferaseHumansMaleMutationPolymorphism, GeneticGlucuronosyltransferasecrigler-najjar syndrome type Ihereditary unconjugated hyperbilirubinemia(TA) 8UDP-glucuronosyl transferaseUGT1A1

Identifiers

PMID35527687
PMCPMC9169181
OpenAlexW4229378924

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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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.