ArticleMolecular biology reports2019
Analysis of p.Gly12Valfs*2, p.Trp24* and p.Trp77Arg mutations in GJB2 and p.Arg81Gln variant in LRTOMT among non syndromic hearing loss Egyptian patients: implications for genetic diagnosis.
Article in Molecular biology reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.
- Genetics and meta-analysis of recessive non-syndromic hearing impairment and Usher syndrome in Maghreb population: lessons from the past, contemporary actualities and future challenges.Human genetics · 2022Pooled it
- Situational analysis of health systems for ear and hearing care in the World Health Organization (WHO) Eastern Mediterranean Region: A systematic review and evidence synthesis to inform national policies and strategies.SSM - health systems · 2026Article
- Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2023Article
- Diagnosis and staging of HCV associated fibrosis, cirrhosis and hepatocellular carcinoma with target identification for miR-650, 552-3p, 676-3p, 512-5p and 147b.Cancer biomarkers : section A of Disease markers · 2022Article
- Expression and Clinical Values of Serum miR-155 and miR-224 in Chinese Patients with HCV Infection.International journal of general medicine · 2022Article
- Jia-ga-song-tang protection against alcoholic liver and intestinal damage.Frontiers in pharmacology · 2022Article
- Deep analysis of the LRTOMTc.242G>A variant in non-syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies.Molecular genetics & genomic medicine · 2021Article
- Whole exome sequencing, in silico and functional studies confirm the association of theSaudi journal of biological sciences · 2021Article
- Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population.Journal of advanced research · 2021Article
- Investigation of the relationship between CTLA4 and the tumor suppressor RASSF1A and the possible mediating role of STAT4 in a cohort of Egyptian patients infected with hepatitis C virus with and without hepatocellular carcinoma.Archives of virology · 2021Article
- A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.BMC medical genetics · 2020Article
- Circulating miRNAs (135a-5p, 646 AND 1271-5P) in Breast Cancer Diagnosis and Staging: Integrative Network and Functional Analysis.Journal of circulating biomarkersArticle
Corrections and comments
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Authors and funding
3 authors at 3 institutions in 2 countries.
Funding
Abstract
Hearing loss (HL) is a global sensory disorder that affects children and deprives them from their rights to enjoy standard social and educational levels. Although hundreds of genetic mutations across several genes have been linked to HL, very limited studies are available on Egyptian population which has high rate of consanguinity and HL. The frequency of the p.Gly12Valfs*2, p.Trp24* and p.Trp77Arg mutations in GJB2 along with the p.Arg81Gln variant in LRTOMT gene was investigated in Egyptian patients. 103 non-syndromic HL (NSHL) Egyptian patients and 100 control subjects were recruited in this study. PCR-RFLP and Direct sequencing were performed to screen and confirm presence/absence of those mutations in Egyptian population. The p.Gly12Valfs*2 mutation was found in eight patients (7.8%) (six homozygous and two heterozygous) with an allele frequency of 6.8%. The p.Trp24* and p.Trp77Arg were absent in both HL patients and controls. Another one patient had the heterozygous variant for p.Arg81Gln in LRTOMT gene. This study reports, for the first time, the presence of a heterozygous change for the p.Arg81Gln in LRTOMT gene in one Egyptian patient. The p.Gly12Valfs*2 mutation, but not the p.Trp24* nor the p.Trp77Arg, in GJB2 is the most frequent variant among Egyptian patients and would therefore be recommended for genetic counseling and diagnosis.
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