Evidence map›Paper›PMID 30906833›Full record

ArticleGenes & diseases2019

A novel mutation in exon 11 of COMP gene in a Chinese family with pseudoachondroplasia.

Jun Chen, Wenbing Zhang, Jinzhou He, Run Zhang, Yinqiang Cao, Xing Liu

Open access · diamondAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes & diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.3field-weighted citation impact, top 45% 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

4 citing papers in PubMed, 7 citations in OpenAlex.

  1. Review
  2. Review
  3. Review
  4. A NovelBioMed research international · 2021
    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

6 authors at 2 institutions in 2 countries.

Jun ChenDepartment of Orthopedic, Chongqing Children's Hospital, Chongqing Medical University, No. 136 of Zhong Shan Er Lu, Chongqing, 400014, China.
Wenbing ZhangDepartment of Orthopedic, Chongqing Children's Hospital, Chongqing Medical University, No. 136 of Zhong Shan Er Lu, Chongqing, 400014, China.
Jinzhou HeDepartment of Orthopedic, Chongqing Children's Hospital, Chongqing Medical University, No. 136 of Zhong Shan Er Lu, Chongqing, 400014, China.
Run ZhangDepartment of Orthopedic, Chongqing Children's Hospital, Chongqing Medical University, No. 136 of Zhong Shan Er Lu, Chongqing, 400014, China.
Yinqiang CaoDepartment of Orthopedic, Chongqing Children's Hospital, Chongqing Medical University, No. 136 of Zhong Shan Er Lu, Chongqing, 400014, China.
Xing LiuDepartment of Orthopedic, Chongqing Children's Hospital, Chongqing Medical University, No. 136 of Zhong Shan Er Lu, Chongqing, 400014, China.
Children's Hospital of Chongqing Medical University · CNUniversity of Chicago Medical Center · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pseudoachondroplasia (PSACH) is a relatively common skeletal dysplasia characterized by disproportionate short stature, joint laxity, early-onset osteoarthrosis, and dysplasia of the spine, epiphysis, and metaphysis. It is known as an autosomal dominant disease which results exclusively from mutations in the gene for Cartilage Oligomeric Matrix Protein (COMP). We have identified a five year old Chinese boy who was diagnosed as pseudoachondroplasia according to clinical manifestations and X-ray symptoms. His mother seems like another effected individual because of the apparent short stature. Genomic DNA was extracted from peripheral blood lymphocytes. DNA sequencing analysis of the COMP gene revealed a heterozygous mutation (c.1219 T > C,p.Cys407Arg) in the patient. His mother was also affected with the same genetic change. Mutations in COMP gene is proved to change the Cartilage Oligomeric Matrix Protein. This missense mutation (c.1219 T > C) has not been reported before and it is not belongs to polymorphism sites. Our results extend the spectrum of mutations in COMP gene leading to pseudoachondroplasia.

Indexed as

COMPNovel mutationPseudoachondroplasiaSkeletal dysplasiaTherapy

Identifiers

PMID30906833
PMCPMC6411627
OpenAlexW2791495644

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.