Evidence map›Paper›PMID 38778612›Full record

ArticleCurrent aging science2025

A Mutation in the CACNA1F Gene Found by Whole Exome Sequencing (WES) and

Vahid Omarmeli, Marjan Assefi, Kai-Uwe Lewandrowski, Alireza Sharafshah, Hanieh Faizmahdavi, Parichehr Darabi, Amir Amiri, Nasrin Mansouri

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Current aging science, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Vahid OmarmeliDepartment of Biology, College of Bioscience, Islamic Azad University, Tehran North Branch, Tehran, Iran.
Marjan AssefiDepartment of Biology, University of North Carolina, Greensboro, North Carolina, USA.
Kai-Uwe LewandrowskiCenter for Advanced Spine Care of Southern Arizona, University of Arizona, Tucson, USA.
Alireza SharafshahCellular and Molecular Research Center, School of Medicine, Guilan University of Medical Sciences, Rasht, Iran.
Hanieh FaizmahdaviDepartment of Obstetrics and Gynecology, Clinical Research Development Center, Imam Reza hospital, Kermanshah University of Medical Sciences, Kermanshah, Iran.
Parichehr DarabiDr. Shaveisi-zadeh Medical Genetic Lab, Kermanshah, Iran.
Amir AmiriDr. Shaveisi-zadeh Medical Genetic Lab, Kermanshah, Iran.
Nasrin MansouriDepartment of Obstetrics and Gynecology, Clinical Research Development Center, Imam Reza hospital, Kermanshah University of Medical Sciences, Kermanshah, Iran.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundX-linked mutations are highly important in clinical diagnosis, and at least 533 disorders are related to the genes located on the X chromosome. CASE PRESENTATION: A 21-year-old Caucasian woman with a 24-year-old Caucasian man as her fiancé referred Clinical genetic lab for premarital genetic counseling (carrier screening). None of them had any abnormal manifestations. Following genetic counseling, Whole Exome Sequencing (WES) test performed to find the possible pathogenic mutations. Also, after drawing the couple's pedigree, candidate mutations were examined in the woman's parents as well as her uncles. Additionally,

conclusionConclusively, the current study emphasizes the non-pathogenic effect of missense mutation R1362Q in the 35th exon of CACNA1F in association with ocular diseases. This will ensure the reports of this mutation as healthy instead of uncertain in the literature and databanks.

Indexed as

Calcium Channels, L-TypeConsanguinityExome SequencingGenetic Diseases, X-LinkedMutationAdultComputer SimulationDNA Mutational AnalysisFemaleGenetic CounselingGenetic Predisposition to DiseaseHeredityHumansIranMalePedigreeCACNA1F protein, humanCalcium Channels, L-TypeblindnessCACNA1Fhomology modeling.mutationWhole exome sequencing

Identifiers

PMID38778612

What OpenQuestion holds

Textmetadata
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.