Evidence map›Paper›PMID 34322776›Full record

ArticleJournal, genetic engineering & biotechnology2021

IGF1R, IGFALS, and IGFBP3 gene copy number variations in a group of non-syndromic Egyptian short children.

Islam M Fadel, Moustafa H Ragab, Ola M Eid, Nivine A Helmy, Hala T El-Bassyouni, Inas Mazen

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

Article in Journal, genetic engineering & biotechnology, 2021. 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 49% 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, 2 citations in OpenAlex.

  1. Runs of Homozygosity Preliminary Investigation in Pig Breeds.Animals : an open access journal from MDPI · 2025
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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.

Islam M FadelDepartment of Human Cytogenetics, National Research Centre, El Buhouth St., Dokki, Cairo, 12622, Egypt. dr.islamfadel@gmail.com.ORCID http://orcid.org/0000-0003-0771-843X
Moustafa H RagabDepartment of Medical Environmental Research, Institute of Environmental Studies and Research, Ain Shams University, El Khalifa El Maamon Street, Cairo, 12622, Egypt.
Ola M EidDepartment of Human Cytogenetics, National Research Centre, El Buhouth St., Dokki, Cairo, 12622, Egypt.
Nivine A HelmyDepartment of Human Cytogenetics, National Research Centre, El Buhouth St., Dokki, Cairo, 12622, Egypt.
Hala T El-BassyouniDepartment of Clinical Genetics, National Research Centre, El Bohouth Street, Dokki, Cairo, 12622, Egypt.
Inas MazenDepartment of Clinical Genetics, National Research Centre, El Bohouth Street, Dokki, Cairo, 12622, Egypt.
National Research Centre · EGAin Shams University · EG

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundInsulin-like growth factor-1 (IGF-1) is required for normal intrauterine and postnatal growth, and this action is mediated through IGF1 receptor (IGF1R). IGF1R copy number variants (CNVs) can cause pre- and postnatal growth restriction, affecting an individual's height. In this study, we used multiplex ligation-dependent probe amplification (MLPA) to detect CNVs in IGF1R, IGFALS, and IGFBP3 genes in the diagnostic workup of short stature for 40 Egyptian children with short stature.

resultsWe detected a heterozygous deletion of IGF1R (exons 4 through 21) in 1 out of the 40 studied children (2.5%). Meanwhile, we did not detect any CNVs in either IGFALS or IGFBP3.

conclusionThe diagnostic workup of short stature using MLPA for CNVs of IGF1R and other recognized height-related genes, such as SHOX and GH, in non-syndromic short stature children can be a fast and inexpensive diagnostic tool to recognize a subcategory of patients in which growth hormone treatment can be considered.

Indexed as

ALSCopy number variations (CNVs)IGF1RIGFBP3Multiplex ligation-dependent probe amplification (MLPA)Short stature

Identifiers

PMID34322776
PMCPMC8319271
OpenAlexW3183451124

What OpenQuestion holds

Textmetadata
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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.