Evidence map›Paper›PMID 39467922›Full record

ArticleJournal of molecular neuroscience : MN2024

Molecular and Clinical Characterization of a Cohort of Autosomal Recessive Sensorineural Hearing Loss in Egyptian Patients.

Mohammed M Sayed-Ahmed, Hala T El-Bassyouni, Hanan H Afifi, Mona L Essawi, Mohamed B Taher, Mohamed I Gadelhak, Rehab A Zaytoun, Ahmed A Abdelmonem, Nagham M Elbagoury

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of molecular neuroscience : MN, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Review
  2. 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

9 authors.

Mohammed M Sayed-AhmedClinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Hala T El-BassyouniClinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Hanan H AfifiClinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Mona L EssawiMedical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt.
Mohamed B TaherClinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Mohamed I GadelhakClinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Rehab A ZaytounPhoniatrics Unit, Faculty of Medicine, Fayoum University, Fayoum, Egypt.
Ahmed A AbdelmonemPhoniatrics Unit, Faculty of Medicine, Beni-Suef University, Beni Suef, Egypt.
Nagham M ElbagouryMedical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt. Naghamelbagoury@hotmail.com.

Funding

National Research Centre 13060157
6 · The paper itself

Abstract

Hearing loss (HL) is one of the most common health problems worldwide. Autosomal recessive non-syndromic sensorineural hearing loss (ARNSHL) represents a large portion of congenital hereditary HL. Our study was conducted on 13 patients from 13 unrelated families. The majority of patients presented with congenital severe to profound bilateral sensorineural HL. All patients were subjected to detailed family history and three-generation pedigree analysis to exclude any environmental cause and to ensure an autosomal recessive mode of inheritance. Molecular analysis was performed using the whole exome sequencing (WES) technique for the recruited patients. Three variants in the MYO7A and OTOF genes were reported for the first time in patients with ARNSHL (one nonsense, one frameshift, and one splice variant). Ten previously reported variants were detected in seven genes (GJB2, MYO15A, BSND, OTOF, CDH23, SLC26A4, and TMIE). They varied between missense, nonsense, frameshift, and splice variants. This study expands the molecular spectrum of two types of autosomal recessive deafness (types 2 and 9).

Indexed as

Hearing Loss, SensorineuralPedigreeAdolescentAdultChildChild, PreschoolEgyptFemaleHumansMaleMembrane ProteinsMutationMyosin VIIaMembrane ProteinsMyosin VIIaOTOF protein, humanARNSHLBSNDGJB2MYO7AOTOFWES

Identifiers

PMID39467922
PMCPMC11519120

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Registered trials

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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.