Evidence map›Paper›PMID 27325559›Full record

ArticleMolecular pain2016

Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2.

Hao Deng, Dan He, Pengfei Rong, Hongbo Xu, Lamei Yuan, Liu Li, Qian Lu, Yi Guo

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

Article in Molecular pain, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.2field-weighted citation impact, top 20% 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

5 citing papers in PubMed, 14 citations in OpenAlex.

  1. Identification of a novel mutation in theFrontiers in pediatrics · 2025
    Article
  2. Article
  3. Article
  4. Article
  5. Genetics of Osteopetrosis.Current osteoporosis reports · 2018
    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

8 authors at 2 institutions in 1 country.

Hao DengCenter for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, China hdeng008@yahoo.com yiguo0816@yahoo.com.
Dan HeCenter for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China.
Pengfei RongDepartment of Radiology, the Third Xiangya Hospital, Central South University, Changsha, China.
Hongbo XuCenter for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China.
Lamei YuanCenter for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China.
Liu LiDepartment of Pediatrics, the Third Xiangya Hospital, Central South University, Changsha, China.
Qian LuCenter for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China.
Yi GuoCenter for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China Department of Medical Information, Information Security and Big Data Research Institute, Central South University, Changsha, China.
Third Xiangya Hospital · CNCentral South University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Osteopetrosis is a heritable bone condition featuring increased bone density due to defective osteoclastic bone resorption. Exome sequencing and Sanger sequencing were conducted in Han Chinese family members, some of whom had typical osteopetrosis, and a novel missense variant c.2350A>T (p.R784W) in the chloride channel 7 gene (CLCN7) was identified. This variant cosegregated with the disorder in the family but was not observed in 800 controls. The data indicate that exome sequencing is a powerful and effective molecular diagnostic tool for detecting mutations in osteopetrosis, which is a genetically and clinically heterogeneous disorder. This discovery broadens the CLCN7 gene mutation spectrum and has important implications for clinical therapeutic regimen decisions, prognosis evaluations, and antenatal diagnoses.

Indexed as

Genes, DominantAdolescentAdultAgedAmino Acid SequenceAsian PeopleChloride ChannelsConserved SequenceDNA Mutational AnalysisEthnicityExomeFamilyFemaleHumansMaleMiddle AgedChloride ChannelsCLCN7 protein, humanAutosomal dominant osteopetrosis-2exome sequencingmutationthe CLCN7 gene

Identifiers

PMID27325559
PMCPMC4955969
OpenAlexW2465355254

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.