Evidence map›Paper›PMID 39183348›Full record

ArticleHuman genome variation2024

Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia.

Layla Masuda, Akihiro Hasegawa, Hiromi Kamura, Fuyuki Hasegawa, Michihiro Yamamura, Kosuke Taniguchi, Yuki Ito, Kenichiro Hata, Osamu Samura, Aikou Okamoto

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In one paragraph

Article in Human genome variation, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
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

3 citing papers in PubMed.

  1. Review
  2. Article
  3. Review
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

10 authors.

Layla MasudaDepartment of Obstetrics and Gynecology, The Jikei University School of Medicine, Tokyo, Japan. laylam1118@gmail.com.
Akihiro HasegawaDepartment of Obstetrics and Gynecology, The Jikei University School of Medicine, Tokyo, Japan.
Hiromi KamuraDepartment of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Fuyuki HasegawaCenter for Clinical Genetics, National Center for Child Health and Development, Tokyo, Japan.
Michihiro YamamuraDepartment of Obstetrics and Gynecology, The Jikei University School of Medicine, Tokyo, Japan.
Kosuke TaniguchiDepartment of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.ORCID http://orcid.org/0000-0003-1562-3764
Yuki ItoDepartment of Obstetrics and Gynecology, The Jikei University School of Medicine, Tokyo, Japan.ORCID http://orcid.org/0000-0002-6882-7560
Kenichiro HataDepartment of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.ORCID http://orcid.org/0000-0002-7809-7637
Osamu SamuraDepartment of Obstetrics and Gynecology, The Jikei University School of Medicine, Tokyo, Japan.ORCID http://orcid.org/0000-0002-7249-1537
Aikou OkamotoDepartment of Obstetrics and Gynecology, The Jikei University School of Medicine, Tokyo, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Type 2 spinal muscular atrophy with lower extremity dominance (SMALED2) is caused by bicaudal D cargo adaptor 2 (BICD2) variants. However, the SMALED2 genotype and phenotype correlation have not been thoroughly characterized. We identified de novo heterozygous BICD2 missense variants in two fetuses with severe, prenatally diagnosed multiple arthrogryposis congenita. This report provides further insights into the genetics of this rare disease.

Identifiers

PMID39183348
PMCPMC11345410

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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.