Evidence map›Paper›PMID 39817524›Full record

ArticleMolecular genetics & genomic medicine2025

Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis.

Kohta Nakamura, Yukiko Yatsuka, Sachie Naito, Akira Hasegawa, Takeya Kasukawa, Atsushi Kondo, Yoshihito Kishita, Yohei Sugiyama, Takanori Onuki, Tomohiro Ebihara and 6 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics & genomic medicine, 2025. 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

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2 · The registry

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3 · Its place in the literature

Who cites it

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No citing paper in PubMed yet.

4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

16 authors.

Kohta NakamuraDiagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
Yukiko YatsukaDiagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.ORCID https://orcid.org/0000-0003-3137-6919
Sachie NaitoDepartment of Pediatrics, Funabashi Central Hospital, Chiba, Japan.
Akira HasegawaLaboratory for Large-Scale Biomedical Data Technology, RIKEN Center for Integrative Medical Sciences, Kanagawa, Japan.
Takeya KasukawaLaboratory for Large-Scale Biomedical Data Technology, RIKEN Center for Integrative Medical Sciences, Kanagawa, Japan.
Atsushi KondoLaboratory for Large-Scale Biomedical Data Technology, RIKEN Center for Integrative Medical Sciences, Kanagawa, Japan.
Yoshihito KishitaDepartment of Life Science, Faculty of Science and Engineering, Kindai University, Osaka, Japan.
Yohei SugiyamaDepartment of Pediatrics, Faculty of Medicine, Juntendo University, Tokyo, Japan.
Takanori OnukiDepartment of Metabolism, Chiba Children's Hospital, Chiba, Japan.
Tomohiro EbiharaDepartment of Metabolism, Chiba Children's Hospital, Chiba, Japan.
Tomoko TsuruokaDepartment of Neonatology, Chiba Children's Hospital, Chiba, Japan.
Takuya FushimiDepartment of Metabolism, Chiba Children's Hospital, Chiba, Japan.
Akira OhtakeDepartment of Pediatrics & Clinical Genomics, Saitama Medical University, Saitama, Japan.
Kei MurayamaDiagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
Atsuko Imai-OkazakiDiagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
Yasushi OkazakiDiagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.ORCID https://orcid.org/0000-0003-3241-5502

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSengers syndrome is an autosomal recessive mitochondrial DNA depletion syndrome characterized by hypertrophic cardiomyopathy, congenital cataracts, skeletal myopathy, exercise intolerance, and lactic acidosis. Dysfunction of acylglycerol kinase (AGK) is responsible for the disease, and several AGK gene variants have been reported.

methodsWe employed a comprehensive genomic analysis approach, including whole-genome sequencing and RNA sequencing, combined with various bioinformatics tools.

resultsOur analysis successfully diagnosed Sengers syndrome in a patient by detecting a known pathogenic variant and a previously unreported large deletion involving the AGK gene in a segmental duplication.

conclusionThis study demonstrates the effectiveness of combining multiple genomic analysis approaches for the accurate diagnosis of Sengers syndrome, particularly in cases involving complex genetic variations such as large deletions in segmental duplications.

Indexed as

Acidosis, LacticCardiomyopathy, HypertrophicCataractMitochondrial DiseasesPhosphotransferases (Alcohol Group Acceptor)HumansWhole Genome SequencingPhosphotransferases (Alcohol Group Acceptor)genetic analysismitochondrial diseasemitochondrial DNA depletion syndromemitochondrial respiratory chain complex deficienciesSengers syndrome

Identifiers

PMID39817524
PMCPMC11736639

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.