Evidence map›Paper›PMID 32696176›Full record

ArticleEndocrine2021

Compound heterozygous GLI3 variants in siblings with thyroid hemiagenesis.

Ewelina Szczepanek-Parulska, Bartłomiej Budny, Martyna Borowczyk, Katarzyna Zawadzka, Paweł Sztromwasser, Marek Ruchała

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

Article in Endocrine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.4field-weighted citation impact, top 40% 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

6 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
  4. NKX2-5 Variant in Two Siblings with Thyroid Hemiagenesis.International journal of molecular sciences · 2022
    Article
  5. Review
  6. 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

6 authors at 2 institutions in 1 country.

Ewelina Szczepanek-ParulskaDepartment of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, 49 Przybyszewskiego Street, 60-355, Poznan, Poland. ewelinaparulska@gmail.com.ORCID http://orcid.org/0000-0003-3661-3274
Bartłomiej BudnyDepartment of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, 49 Przybyszewskiego Street, 60-355, Poznan, Poland.
Martyna BorowczykDepartment of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, 49 Przybyszewskiego Street, 60-355, Poznan, Poland.
Katarzyna ZawadzkaMNM Diagnostics Sp. z o.o, 64 Macieja Rataja Street, 61-695, Poznan, Poland.
Paweł SztromwasserMNM Diagnostics Sp. z o.o, 64 Macieja Rataja Street, 61-695, Poznan, Poland.
Marek RuchałaDepartment of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, 49 Przybyszewskiego Street, 60-355, Poznan, Poland.
Poznan University of Medical Sciences · PLMedical University of Lodz · PL

Funding

MINIATURA 2 Grant of Polish National Center for Science 2018/02/X/NZ5/00759
6 · The paper itself

Abstract

purposeThyroid hemiagenesis (THA) is an inborn absence of one thyroid lobe of largely unknown etiopathogenesis, affecting 0.05-0.5% population. The aim of the study was an identification of genetic factors responsible for thyroid maldevelopment in two siblings with THA.

methodsWe evaluated a three-generation THA family with two sisters presenting the disorder. Proband (Patient II:3) was diagnosed at the age of 45 due to neck asymmetry. Left lobe agenesis and nontoxic multinodular goiter were depicted. Proband's sister (Patient II:6) was euthyroid, showed up at the age of 39 due to neck discomfort and left-sided THA was demonstrated. Affected individuals were subjected to whole-exome sequencing (WES) (Illumina, TruSeq Exome Kit) and all identified variants were evaluated for pathogenicity. Sanger sequencing was used to confirm WES data and check segregation among first-degree relatives.

resultsIn both siblings, a compound heterozygous mutations NM_000168.6: c.[2179G>A];[4039C>A] (NP_000159.3: p.[Gly727Arg];[Gln1347Lys]) were identified in the GLI3 gene, affecting exon 14 and 15, respectively. According to the American College of Medical Genetics, variants are classified as of uncertain significance, and were found to be very rare (GnomAD MAF 0.007131 and 0.00003187). The segregation mapping and analysis of relatives indicated causativeness of compound heterozygosity.

conclusionsWe demonstrated for the first time a unique association of THA phenotype and the presence of compound heterozygous mutations p.[Gly727Arg];[Gln1347Lys] of GLI3 gene in two siblings.

Indexed as

SiblingsThyroid DysgenesisZinc Finger Protein Gli3ExomeHumansMutationNerve Tissue ProteinsPedigreeGLI3 protein, humanNerve Tissue ProteinsZinc Finger Protein Gli3GLI3 geneGLIS3 geneThyroid dysgenesisThyroid hemiagenesisWhole-exome sequencing

Identifiers

PMID32696176
PMCPMC7881956
OpenAlexW3044507202

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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.