ArticleScientific reports2016
Novel CHM mutations identified in Chinese families with Choroideremia.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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.
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.
Who cites it
7 citing papers in PubMed, 11 citations in OpenAlex.
- The genetic counseling in a patient affected by choroideremia solved with the whole-exome sequencing approach.Indian journal of ophthalmology · 2022Article
- Whole-exome sequencing identified a novel mutation inJournal of genetics · 2021Article
- Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia.Investigative ophthalmology & visual science · 2020Article
- Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novelHuman genome variation · 2020Article
- Novel CHM mutations in Polish patients with choroideremia - an orphan disease with close perspective of treatment.Orphanet journal of rare diseases · 2018Article
- [Warburg-Micro syndrome caused by 1q43-q44 deletion: genotypic and phenotypic analysis in a child].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2018Article
- Evaluation of amplification refractory mutation system (ARMS) technique for quick and accurate prenatal gene diagnosis ofThe application of clinical genetics · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Choroideremia is a bilateral and progressive X-linked inherited disease characterized by widespread chorioretinal atrophy with relative sparing of the macular region. It is caused by mutations in the ubiquitously expressed CHM gene, which lead to the absence of the Rab escort protein 1 (REP-1), resulting in prenylation deficiency. Typical fundus appearances for choroideremia were found in 3 probands from three unrelated Chinese families in our study. We firstly used the targeted exome sequencing (TES) technology to detect mutations in CHM gene. Based on an established filtering strategy of data analyses, along with confirmation by co-segregation, a previously reported mutation (c.1584_1587del TGTT, p.V529Hfs*7) was identified in one family, while two novel mutations (c.227_232delinsTGTCATTTCA, p.Q76Lfs*7; c.710dupA, p.Y237_S238delinsX) were identified in the other two families. These findings not only expands the currently limited spectrum of Chinese disease-causing variants in CHM gene, but also increases our understanding of the phenotypic and genotypic correlations of choroideremia, and may potentially lead to improved genetic counseling and specific treatment for families with choroideremia as well.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.