Evidence map›Paper›PMID 37822584›Full record

ArticleExperimental and therapeutic medicine2023

Genetic diagnosis of a rare COL7A1 variant causing dystrophic epidermolysis bullosa pruriginosa through whole‑exome sequencing.

Yanhui Yang, Yangmin Gao, Mengna Zhang, Hua Qian, Ke Zhao, Weijuan Wang, Yanxiu Ma, Dan Zhang, Xiaoguang Li, Fengming Hu and 1 more

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

Article in Experimental and therapeutic medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 71% 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

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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

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

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

11 authors at 2 institutions in 1 country.

Yanhui YangKey Laboratory of Aging and Cancer Biology, Department of Immunology and Pathogen Biology, School of Basic Medical Sciences, Hangzhou Normal University, Hangzhou, Zhejiang 311121, P.R. China.
Yangmin GaoJiangxi Provincial Clinical Research Center for Skin Diseases, Dermatology Hospital of Jiangxi Province, The Affiliated Dermatology Hospital of Nanchang University, Nanchang, Jiangxi 330200, P.R. China.
Mengna ZhangKey Laboratory of Aging and Cancer Biology, Department of Immunology and Pathogen Biology, School of Basic Medical Sciences, Hangzhou Normal University, Hangzhou, Zhejiang 311121, P.R. China.
Hua QianJiangxi Provincial Clinical Research Center for Skin Diseases, Dermatology Hospital of Jiangxi Province, The Affiliated Dermatology Hospital of Nanchang University, Nanchang, Jiangxi 330200, P.R. China.
Ke ZhaoKey Laboratory of Aging and Cancer Biology, Department of Immunology and Pathogen Biology, School of Basic Medical Sciences, Hangzhou Normal University, Hangzhou, Zhejiang 311121, P.R. China.
Weijuan WangKey Laboratory of Aging and Cancer Biology, Department of Immunology and Pathogen Biology, School of Basic Medical Sciences, Hangzhou Normal University, Hangzhou, Zhejiang 311121, P.R. China.
Yanxiu MaKey Laboratory of Aging and Cancer Biology, Department of Immunology and Pathogen Biology, School of Basic Medical Sciences, Hangzhou Normal University, Hangzhou, Zhejiang 311121, P.R. China.
Dan ZhangKey Laboratory of Aging and Cancer Biology, Department of Immunology and Pathogen Biology, School of Basic Medical Sciences, Hangzhou Normal University, Hangzhou, Zhejiang 311121, P.R. China.
Xiaoguang LiJiangxi Provincial Clinical Research Center for Skin Diseases, Dermatology Hospital of Jiangxi Province, The Affiliated Dermatology Hospital of Nanchang University, Nanchang, Jiangxi 330200, P.R. China.
Fengming HuJiangxi Provincial Clinical Research Center for Skin Diseases, Dermatology Hospital of Jiangxi Province, The Affiliated Dermatology Hospital of Nanchang University, Nanchang, Jiangxi 330200, P.R. China.
Xiaoming SunKey Laboratory of Aging and Cancer Biology, Department of Immunology and Pathogen Biology, School of Basic Medical Sciences, Hangzhou Normal University, Hangzhou, Zhejiang 311121, P.R. China.
Hangzhou Normal University · CNNanchang University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Dystrophic epidermolysis bullosa pruriginosa (DEB-Pr) is a rare subtype of inherited DEB. In the present study, whole-exome sequencing was conducted on 12 individuals from the same affected family and a rare heterozygous variation was identified in the collagen type VII, α1 (COL7A1) gene, namely c.6859G>A (p.Gly2287Arg). Subsequently, this heterozygous variant was confirmed using Sanger sequencing of individual plasma cell-free DNA (cfDNA) and it was demonstrated for the first time, to the best of our knowledge, that COL7A1 exons can be amplified from plasma cfDNA. Within the large pedigree examined, 14 out of 18 individuals carried the variant, 3 carried the wild type, and one exceptional case, III-9, showed no disease symptoms despite carrying the disease variant. A general association between genotype and phenotype was established. Of note, the mutation landscape indicated that this G2287R variant is primarily reported in Asian countries.

Indexed as

cell-free DNACOL7A1dystrophic epidermolysis bullosa pruriginosawhole-exome sequencing

Identifiers

PMID37822584
PMCPMC10562958
OpenAlexW4386607532

What OpenQuestion 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 OpenQuestion graph.