Evidence map›Paper›PMID 42344358›Full record

ArticleFrontiers in cardiovascular medicine2026

A de novo LDLR mutation in severe familial hypercholesterolemia: case report, functional characterization, and a personalized gene correction strategy exploration.

Shuran Zhang, Wenming Huang, Haoqiang Chen, Ninghui Mu, Le Chang, Baosheng Zhu, Jinman Zhang, Ying Chan

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Article in Frontiers in cardiovascular medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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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

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Shuran Zhang *Medical Genetics Department of The First People's Hospital of Yunnan Province/Affiliated Hospital of Kunming University of Science and Technology, Key Laboratory Reproductive Health and Birth Defects Prevention and Control in Western China, National Health Commission, Key Laboratory of Birth Defects and Genetic Diseases of Yan Province, Kunming, Yunnan, China.
Wenming Huang *Medical Genetics Department of The First People's Hospital of Yunnan Province/Affiliated Hospital of Kunming University of Science and Technology, Key Laboratory Reproductive Health and Birth Defects Prevention and Control in Western China, National Health Commission, Key Laboratory of Birth Defects and Genetic Diseases of Yan Province, Kunming, Yunnan, China.
Haoqiang ChenMedical Genetics Department of The First People's Hospital of Yunnan Province/Affiliated Hospital of Kunming University of Science and Technology, Key Laboratory Reproductive Health and Birth Defects Prevention and Control in Western China, National Health Commission, Key Laboratory of Birth Defects and Genetic Diseases of Yan Province, Kunming, Yunnan, China.
Ninghui MuMedical Genetics Department of The First People's Hospital of Yunnan Province/Affiliated Hospital of Kunming University of Science and Technology, Key Laboratory Reproductive Health and Birth Defects Prevention and Control in Western China, National Health Commission, Key Laboratory of Birth Defects and Genetic Diseases of Yan Province, Kunming, Yunnan, China.
Le ChangMedical Genetics Department of The First People's Hospital of Yunnan Province/Affiliated Hospital of Kunming University of Science and Technology, Key Laboratory Reproductive Health and Birth Defects Prevention and Control in Western China, National Health Commission, Key Laboratory of Birth Defects and Genetic Diseases of Yan Province, Kunming, Yunnan, China.
Baosheng ZhuMedical Genetics Department of The First People's Hospital of Yunnan Province/Affiliated Hospital of Kunming University of Science and Technology, Key Laboratory Reproductive Health and Birth Defects Prevention and Control in Western China, National Health Commission, Key Laboratory of Birth Defects and Genetic Diseases of Yan Province, Kunming, Yunnan, China.
Jinman ZhangMedical Genetics Department of The First People's Hospital of Yunnan Province/Affiliated Hospital of Kunming University of Science and Technology, Key Laboratory Reproductive Health and Birth Defects Prevention and Control in Western China, National Health Commission, Key Laboratory of Birth Defects and Genetic Diseases of Yan Province, Kunming, Yunnan, China.
Ying ChanMedical Genetics Department of The First People's Hospital of Yunnan Province/Affiliated Hospital of Kunming University of Science and Technology, Key Laboratory Reproductive Health and Birth Defects Prevention and Control in Western China, National Health Commission, Key Laboratory of Birth Defects and Genetic Diseases of Yan Province, Kunming, Yunnan, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Familial hypercholesterolemia (FH) is a genetic disorder of lipid metabolism characterized by elevated plasma low-density lipoprotein resulting in cardiovascular disease (CVD). The harmful mutations of LDLR are the main cause of FH. Especially, there is no effective treatment options for homozygous FH (HoFH) patients. Numerous FH cases have been reported, but most mutations remain unvalidated and lack gene correction studies. The study aims to assess the pathogenicity of a novel mutation, Methods: The study systematically evaluated a female HoFH patient and her family. Using CRISPR/Cas9 technology, a Huh7 cell line carrying the point mutation was constructed. The impact of this mutation on LDLR protein expression was confirmed by qPCR, Western blot (WB), and immunofluorescence. A high-fidelity gene correction system targeting the Results: The HoFH patient exhibited a biallelic Conclusion:

Indexed as

familial hypercholesterolemiagene correctionlow-density lipoprotein receptorpathogenicity validationprime editing

Identifiers

PMID42344358
PMCPMC13286746

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