Evidence map›Paper›PMID 41204220›Full record

ArticleBMC medical genomics2025

Identification of a VHL germline deletion in a family with Von Hippel-Lindau syndrome using MLPA-NGS.

Yongchen Yang, Xiaolan Ren, Chaoran Xia, Ying Zhang, Xiaozhen Song, Xiaojun Tang, Chengkan Du, Wuhen Xu, Wenhao Weng

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PubMed Full text at PMC Publisher
In one paragraph

Article in BMC medical genomics, 2025. 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
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1 · What the graph read from it

What it found

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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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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.

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

9 authors.

Yongchen Yang *Department of Clinical Laboratory, Shanghai Childrens Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200040, P.R. China.
Xiaolan Ren *Department of Pediatrics, The Affiliated Qingdao Third People's Hospital of Qingdao University, Qingdao, 266000, P.R. China.
Chaoran XiaSchool of Life Sciences and Biotechnology, Shanghai Jiao Tong University, 800 Dongchuan Road, Shanghai, 200240, P.R. China. chaoransh@163.com.ORCID http://orcid.org/0000-0003-0887-9665
Ying ZhangDepartment of endocrinology, Shanghai Childrens Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200040, P.R. China.
Xiaozhen SongDepartment of Clinical Laboratory, Shanghai Childrens Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200040, P.R. China.
Xiaojun TangDepartment of Clinical Laboratory, Shanghai Childrens Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200040, P.R. China.
Chengkan DuDepartment of Clinical Laboratory, Shanghai Childrens Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200040, P.R. China.
Wuhen XuDepartment of Clinical Laboratory, Shanghai Childrens Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200040, P.R. China.
Wenhao WengDepartment of Clinical Laboratory, Shanghai Childrens Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200040, P.R. China. wengwenhao@shchildren.com.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Von Hippel-Lindau syndrome (VHL) is an autosomal dominant disorder characterized by the development of tumors and cysts in multiple organs. Pathogenic variants in VHL are known to be associated with the development of this syndrome. Therefore, the present study aimed to investigate VHL rearrangements in a family with VHL syndrome. In the proband, who presented with retinal hemangioma, whole exome sequencing (WES) revealed significant genetic variation. However, WES did not detect germline deletion in VHL in the proband's son. Furthermore, multiplex ligation-dependent probe amplification (MLPA)-next-generation sequencing (NGS) analysis showed that the genomes of the proband and her son encompassed a deletion in VHL, extending from exon 2 to exon 3. Via increasing the probe density to gradually approach the breakpoint and following Sanger sequencing analysis, it was verified that an intermediate fragment of 6,662 bp was lost, with a reconnection occurring between chromosome 3:10145434 and 10,152,097 (GRCh38/hg38). Overall, the present study demonstrated that the application of MLPA-NGS technology combined with Sanger sequencing could be employed to precisely locate deleted DNA ‌fragments.

Indexed as

Germ-Line MutationHigh-Throughput Nucleotide SequencingMultiplex Polymerase Chain ReactionSequence Deletionvon Hippel-Lindau DiseaseVon Hippel-Lindau Tumor Suppressor ProteinAdultFemaleHumansMalePedigreeVHL protein, humanVon Hippel-Lindau Tumor Suppressor ProteinBreakpointsGenomic rearrangementGermline deletionMultiplex ligation-dependent probe amplificationNext-generation sequencingVon Hippel-Lindau syndrome

Identifiers

PMID41204220
PMCPMC12593785

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.