Evidence map›Paper›PMID 42394944›Full record

ArticleFrontiers in genetics2026

Stepwise genetic testing strategy identified pathogenic variants in 10 Chinese duchenne muscular dystrophy patients.

Dengzhi Zhao, Wenke Yang, Ke Yang, Dong Wu, Na Qi, Shixiu Liao

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Article in Frontiers in genetics, 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

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Dengzhi ZhaoInstitute of Medical Genetics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, People's Hospital of Henan University, Zhengzhou, China.
Wenke YangInstitute of Medical Genetics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, People's Hospital of Henan University, Zhengzhou, China.
Ke YangInstitute of Medical Genetics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, People's Hospital of Henan University, Zhengzhou, China.
Dong WuInstitute of Medical Genetics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, People's Hospital of Henan University, Zhengzhou, China.
Na QiInstitute of Medical Genetics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, People's Hospital of Henan University, Zhengzhou, China.
Shixiu LiaoInstitute of Medical Genetics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, People's Hospital of Henan University, Zhengzhou, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Duchenne muscular dystrophy (DMD) results from pathogenic variants in the Methods: We implemented a tiered molecular diagnostic workflow for 10 male patients with suspected DMD. Primary screening for copy number variations (CNVs) was performed via MLPA. Negative cases were sequentially analyzed using WES and Whole-Genome Sequencing (WGS). Pathogenicity was validated through Results: MLPA identified CNVs in six cases. WES resolved two additional patients, identifying a frameshift variant (c.7392delC) and a nonsense variant (c.4729C>T). In the remaining two cases, WGS identified a deep intronic variant (c.9225-287C>A) and a 9.4 Mb chromosomal inversion. Functional analysis of the c.9225-287C>A variant revealed the activation of a 58-nucleotide pseudoexon, resulting in a frameshift (p.H3076Vfs*15) and truncated dystrophin expression. For the 9.4 Mb inversion, WGS successfully mapped the breakpoints to DMD intron 7, enabling definitive carrier identification within the family. Conclusion: Our findings demonstrate that WGS is a robust tool for detecting pathogenic variations that evade standard MLPA and WES protocols, including deep intronic variants and large-scale inversions. This study emphasizes the clinical necessity of an integrated, tiered genomic approach to ensure accurate genetic counseling and facilitate access to precision therapies.

Indexed as

chromosome inversiondeep intronic variantDuchenne muscular dystrophymultiplex ligation-dependent probe amplificationWhole-Exome SequencingWhole-Genome Sequencing

Identifiers

PMID42394944
PMCPMC13327659

What Socratic holds

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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.