Evidence map›Paper›PMID 39595952›Full record

ArticleInternational journal of molecular sciences2024

Targeted NGS Revealed Pathogenic Mutation in a 13-Year-Old Patient with Homozygous Familial Hypercholesterolemia: A Case Report.

Ayaulym E Chamoieva, Zhanel Z Mirmanova, Madina R Zhalbinova, Saule E Rakhimova, Asset Z Daniyarov, Ulykbek Y Kairov, Almira I Baigalkanova, Murat A Mukarov, Makhabbat S Bekbossynova, Ainur R Akilzhanova

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2024. 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
–field-weighted citation impact
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

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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.

  1. 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

10 authors.

Ayaulym E ChamoievaNational Laboratory Astana, Nazarbayev University, Astana 010000, Kazakhstan.
Zhanel Z MirmanovaNational Laboratory Astana, Nazarbayev University, Astana 010000, Kazakhstan.
Madina R ZhalbinovaNational Laboratory Astana, Nazarbayev University, Astana 010000, Kazakhstan.
Saule E RakhimovaNational Laboratory Astana, Nazarbayev University, Astana 010000, Kazakhstan.ORCID 0000-0002-8245-2400
Asset Z DaniyarovNational Laboratory Astana, Nazarbayev University, Astana 010000, Kazakhstan.ORCID 0000-0003-3886-718X
Ulykbek Y KairovNational Laboratory Astana, Nazarbayev University, Astana 010000, Kazakhstan.ORCID 0000-0001-8511-8064
Almira I BaigalkanovaCorporate Fund "University Medical Center", National Research Cardiac Surgery Center, Astana 010000, Kazakhstan.
Murat A MukarovCorporate Fund "University Medical Center", National Research Cardiac Surgery Center, Astana 010000, Kazakhstan.
Makhabbat S BekbossynovaCorporate Fund "University Medical Center", National Research Cardiac Surgery Center, Astana 010000, Kazakhstan.
Ainur R AkilzhanovaNational Laboratory Astana, Nazarbayev University, Astana 010000, Kazakhstan.ORCID 0000-0001-6161-8355

Funding

Committee of Science of the Ministry of Science and Higher Education of the Republic of Kazakh-stan AP14869903Committee of Science of the Ministry of Science and Higher Education of the Republic of Kazakhstan BR18574184Committee of Science of the Ministry of Science and Higher Education of the Republic of Kazakhstan BR21881970Committee of Science of the Ministry of Science and Higher Education of the Republic of Kazakhstan BR24993023
6 · The paper itself

Abstract

Familial hypercholesterolemia is an autosomal hereditary disease defined by an increased level of low-density lipoprotein cholesterol (LDL-C), which predisposes significant risks for premature cardiovascular disorders. We present a family trio study: proband, a 13-year-old Kazakh girl with homozygous familial hypercholesterolemia (HoFH) and her parents. HoFH is much more rare and severe than a heterozygous form of the disorder. HoFH patients generally present with LDL-C levels exceeding 13 mmol/L, resulting in early and life-threatening cardiovascular events within the first decades of life. In cases of neglected treatment, young patients have a risk of death from coronary diseases before the age of 30. The aim of this research was to identify genetic mutations in the affected patient and her parents. Genetic testing was necessary due to highly elevated LDL-C levels and the presence of multiple xanthomas. Targeted next-generation sequencing (NGS) was performed in this study using the Illumina TruSight cardio panel, which targets 174 genes related to cardiac disorders. The girl was diagnosed with HoFH based on the results of genetic testing. A biallelic mutation was observed in exon 3 of the low-density lipoprotein receptor (

Indexed as

High-Throughput Nucleotide SequencingHomozygoteHyperlipoproteinemia Type IIMutationReceptors, LDLAdolescentCholesterol, LDLFemaleHumansPedigreeCholesterol, LDLLDLR protein, humanReceptors, LDLfamilial hypercholesterolemiahomozygous familial hypercholesterolemialow-density lipoprotein receptormutation

Identifiers

PMID39595952
PMCPMC11593385

What Socratic holds

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Registered trials

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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 Socratic graph.