Evidence map›Paper›PMID 38424183›Full record

ArticleJournal of human genetics2024

Dyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients.

Paniz Farshadyeganeh, Takahiro Yamada, Hirofumi Ohashi, Gen Nishimura, Hiroki Fujita, Yuriko Oishi, Misa Nunode, Shuku Ishikawa, Jun Murotsuki, Yuri Yamashita and 4 more

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In one paragraph

Article in Journal of human genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.7field-weighted citation impact, top 32% 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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Review
  2. Article
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

14 authors at 10 institutions in 1 country.

Paniz FarshadyeganehDivision of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Takahiro YamadaDivision of Clinical Genetics, Hokkaido University Hospital, Sapporo, Japan.ORCID http://orcid.org/0000-0002-5370-7873
Hirofumi OhashiDivision of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.
Gen NishimuraDepartment of Radiology, Musashino Yowakai Hospital, Tokyo, Japan.
Hiroki FujitaDepartment of Orthopaedics, Hokkaido Medical Center for Child Health and Rehabilitation, Sapporo, Japan.
Yuriko OishiDepartment of Obstetrics, Asahikawa Medical University, Asahikawa, Japan.
Misa NunodeDepartment of Obstetrics, Osaka Medical and Pharmaceutical University, Takatsuki, Japan.
Shuku IshikawaDepartment of Neonatal Internal Medicine, Hokkaido Medical Center for Child Health and Rehabilitation, Sapporo, Japan.
Jun MurotsukiDepartment of Maternal and Fetal Medicine, Miyagi Children's Hospital, Sendai, Japan.
Yuri YamashitaAging Biology in Health and Disease, Juntendo University Graduate School of Medicine, Tokyo, Japan.
Shiro IkegawaCenter for Integrative Medical Sciences, RIKEN, Tokyo, Japan.
Tomoo OgiDepartment of Genetics, Research Institute of Environmental Medicine (RIeM), Nagoya University, Nagoya, Japan.ORCID http://orcid.org/0000-0002-5492-9072
Eri Arikawa-HirasawaAging Biology in Health and Disease, Juntendo University Graduate School of Medicine, Tokyo, Japan.
Kinji OhnoDivision of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan. ohnok@med.nagoya-u.ac.jp.ORCID http://orcid.org/0000-0002-1529-2750
Nagoya University · JPJuntendo University · JPNational Hospital Organization Hokkaido Medical Center · JPAsahikawa Medical University · JPHokkaido University Hospital · JPMiyagi Children's Hospital · JPOsaka University of Pharmaceutical Sciences · JPRIKEN Center for Integrative Medical Sciences · JPSaitama Children's Medical Center · JPYokufukai Hospital · JP

Funding

Japan Agency for Medical Research and Development (AMED) JP22ek0109488Japan Society for the Promotion of Science London (JSPS London) JP23H02794Japan Society for the Promotion of Science London (JSPS London) JP23K18273
6 · The paper itself

Abstract

Dyssegmental dysplasia (DD) is a severe skeletal dysplasia comprised of two subtypes: lethal Silverman-Handmaker type (DDSH) and nonlethal Rolland-Desbuquois type (DDRD). DDSH is caused by biallelic pathogenic variants in HSPG2 encoding perlecan, whereas the genetic cause of DDRD remains undetermined. Schwartz-Jampel syndrome (SJS) is also caused by biallelic pathogenic variants in HSPG2 and is an allelic disorder of DDSH. In SJS and DDSH, 44 and 8 pathogenic variants have been reported in HSPG2, respectively. Here, we report that five patients with DDRD carried four pathogenic variants in HSPG2: c.9970 G > A (p.G3324R), c.559 C > T (p.R187X), c7006 + 1 G > A, and c.11562 + 2 T > G. Two patients were homozygous for p.G3324R, and three patients were heterozygous for p.G3324R. Haplotype analysis revealed a founder haplotype spanning 85,973 bp shared in the five patients. SJS, DDRD, and DDSH are allelic disorders with pathogenic variants in HSPG2.

Indexed as

HaplotypesHeparan Sulfate ProteoglycansOsteochondrodysplasiasAllelesBone Diseases, DevelopmentalFemaleFetal DiseasesFounder EffectHumansMaleMutationHeparan Sulfate Proteoglycansperlecan

Identifiers

PMID38424183
PMCPMC11126378
OpenAlexW4392298371

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.