Evidence map›Paper›PMID 34815299›Full record

ArticleJournal of medical genetics2022

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in

Mari Minatogawa, Ai Unzaki, Hiroko Morisaki, Delfien Syx, Tohru Sonoda, Andreas R Janecke, Anne Slavotinek, Nicol C Voermans, Yves Lacassie, Roberto Mendoza-Londono and 30 more

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Article in Journal of medical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed
4.7field-weighted citation impact, top 5% 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

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

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

28 citing papers in PubMed, 35 citations in OpenAlex.

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  10. Genetic diagnosis of the Ehlers-Danlos syndromes.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2024
    Article
  11. Clinical diagnosis of the monogenic Ehlers-Danlos syndromes.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2024
    Article
  12. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2024
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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

40 authors at 20 institutions in 12 countries.

Mari MinatogawaDepartment of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
Ai UnzakiDepartment of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
Hiroko MorisakiDepartment of Medical Genetics, Sakakibara Heart Institute, Tokyo, Japan.
Delfien SyxCenter for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Tohru SonodaDepartment of Occupational Therapy, School of Health and Science, Kyushu University of Health and Welfare, Nobeoka, Japan.
Andreas R JaneckeDepartment of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
Anne SlavotinekDivision of Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.ORCID 0000-0001-7053-2449
Nicol C VoermansDepartment of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands.
Yves LacassieDepartment of Pediatrics, Louisiana State University Health Science Center, New Orleans, LA, USA.
Roberto Mendoza-LondonoDivision of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Klaas J WierengaDepartment of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA.
Parul JayakarDivision of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL, USA.
William A GahlUndiagnosed Diseases Program, Office of the NIH Director, National Institutes of Health, Bethesda, MD, USA.
Cynthia J TifftUndiagnosed Diseases Program, Office of the NIH Director, National Institutes of Health, Bethesda, MD, USA.
Luis E FigueraDivisión de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Mexico.
Yvonne Hilhorst-HofsteeDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Alessandra MaugeriDepartment of Clinical Genetics, VU University Medical Centre Amsterdam, Amsterdam, The Netherlands.
Ken IshikawaDepartment of Pediatrics, Iwate Medical University, Morioka, Japan.
Tomoko KobayashiDepartment of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
Yoko AokiDepartment of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.
Toshihiro OhuraDivision of Clinical Laboratory, Sendai City Hospital, Sendai, Japan.
Hiroshi KawameDivision of Genomic Medicine Support and Genetic Counseling, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Michihiro KonoDepartment of Dermatology, Nagoya University Graduate School of Medicine Faculty of Medicine, Nagoya, Japan.
Kosuke MochidaDepartment of Dermatology, University of Miyazaki Faculty of Medicine, Miyazaki, Japan.
Chiho TokorodaniDepartment of Pediatrics, Kochi Health Sciences Center, Kochi, Japan.
Kiyoshi KikkawaDepartment of Pediatrics, Kochi Health Sciences Center, Kochi, Japan.
Takayuki MorisakiDepartment of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Suita, Japan.
Tetsuyuki KobayashiDepartment of Internal Medicine, Nagano Chuo Hospital, Nagano, Japan.
Takaya NakaneDepartment of Pediatrics, Faculty of Medicine, University of Yamanashi, Chuo, Japan.
Akiharu KuboDepartment of Dermatology, Keio University School of Medicine, Tokyo, Japan.
Judith D RanellsDepartment of Pediatrics, University of South Florida, College of Medicine, Tampa, FL, USA.
Ohsuke MigitaDepartment of Clinical Genetics, St. Marianna University, School of Medicine, Kawasaki, Japan.
Glenda SobeyEDS National Diagnostic Service, Sheffield Children's Hospital, Sheffield, UK.
Anupriya KaurDepartment of Pediatrics (Genetics Division), Advanced Pediatric Cente, Post Graduate Institute of Medical Education and Research, Chandigarh, Chandigarh, India.
Masumi IshikawaDepartment of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
Tomomi YamaguchiDepartment of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
Naomichi MatsumotoDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.ORCID 0000-0001-9846-6500
Fransiska MalfaitCenter for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Noriko MiyakeDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Tomoki KoshoDepartment of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan ktomoki@shinshu-u.ac.jp.ORCID 0000-0002-8344-7507
Shinshu University · JPTohoku University · JPGhent University Hospital · BENational Institutes of Health · USUniversity of Kochi · JPYokohama City University · JPAkita University · JPAmsterdam UMC Location Vrije Universiteit Amsterdam · NLChildren's Hospital of New Orleans · USHospital for Sick Children · CAInnsbruck Medical University · ATInstitute of Post Graduate Medical Education and Research · INIwate Medical University · JPKeio University · JPKyushu University of Health and Welfare · JPLeiden University Medical Center · NLMexican Social Security Institute · MXMiami Children's Hospital · USNational Cerebral and Cardiovascular Center · JPRadboud University Nijmegen · NL

Funding

Human Biochemical GeneticsZIAHG000215 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2009 to 2025
$72.6M
Pathogenesis informs therapy in the GM1 and GM2 GangliosidosesZIAHG200409 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI TIFFT, CYNTHIA · 2020 to 2025
$4.1M
6 · The paper itself

Abstract

backgroundMusculocontractural Ehlers-Danlos syndrome is caused by biallelic loss-of-function variants in

methodsWe collected detailed and comprehensive clinical and molecular information regarding previously reported and newly identified patients with mcEDS-

resultsSixty-six patients in 48 families (33 males/females; 0-59 years), including 18 newly reported patients, were evaluated. Japanese was the predominant ethnicity (27 families), associated with three recurrent variants. No apparent genotype-phenotype correlation was noted. Specific craniofacial (large fontanelle with delayed closure, downslanting palpebral fissures and hypertelorism), skeletal (characteristic finger morphologies, joint hypermobility, multiple congenital contractures, progressive talipes deformities and recurrent joint dislocation), cutaneous (hyperextensibility, fine/acrogeria-like/wrinkling palmar creases and bruisability) and ocular (refractive errors) features were observed in most patients (>90%). Large subcutaneous haematomas, constipation, cryptorchidism, hypotonia and motor developmental delay were also common (>80%). Median ages at the initial episode of dislocation or large subcutaneous haematoma were both 6 years. Nine patients died; their median age was 12 years. Several features, including joint and skin characteristics (hypermobility/extensibility and fragility), were significantly more frequent in patients with mcEDS-

conclusionThis first international collaborative study of mcEDS-

Indexed as

Abnormalities, MultipleEhlers-Danlos SyndromeFemaleGenetic Association StudiesHumansMalePhenotypeSulfotransferasesSulfotransferaseshuman geneticsmusculoskeletal diseases

Identifiers

PMID34815299
PMCPMC9411915
OpenAlexW3216901856

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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.