ArticleBMC ear, nose, and throat disorders2018
Frequency of mitochondrial m.1555A > G mutation in Syrian patients with non-syndromic hearing impairment.
Article in BMC ear, nose, and throat disorders, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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8 citing papers in PubMed, 13 citations in OpenAlex.
- 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
- Use of the FLEX 28 Dexamethasone-Eluting Cochlear Implant Electrode in Electric-Acoustic Stimulation: A Case Report.Audiology research · 2025Article
- Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease.Molecular genetics and metabolism · 2022Article
- Comparison of the Mutation Spectrum of Common Deafness-Causing Genes in 509 Patients With Nonsyndromic Hearing Loss in 4 Different Areas of China by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry.The journal of international advanced otology · 2021Article
- Bioinformatics in Sudan: Status and challenges case study: The National University-Sudan.PLoS computational biology · 2021Article
- Adenoid Cystic Carcinoma Breast: a Rare Entity.Indian journal of surgical oncology · 2020Article
- Rescue of degenerating neurons and cells by stem cell released molecules: using a physiological renormalization strategy.Physiological reports · 2019Article
- A novel pathogenic variant in OSBPL2 linked to hereditary late-onset deafness in a Mongolian family.BMC medical genetics · 2019Article
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Authors and funding
7 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMitochondrial maternally inherited hearing impairment (HI) appears to be increasing in frequency. The incidence of mitochondrial defects causing HI is estimated to be between 6 and 33% of all hearing deficiencies. Mitochondrial m.1555A > G mutation is the first mtDNA mutation associated with non-syndromic sensorineural deafness and also with aminoglycoside induced HI. Its prevalence varied geographically between different populations.
methodsWe carried out PCR, restriction enzyme based screening, and sequencing of 337 subjects (including 132 patients diagnosed clinically with hereditary deafness) from 54 families from Syria for m.1555A > G mitochondrial mutation.
resultsMitochondrial m.1555A > G mutation was detected in one of fifty-four families (1.85%), six out of the 132 (4.5%) of all patients with NSHI and one propositus of the 205 individuals with normal hearing (0.48%).
conclusionThis is the first study to report prelingual deafness causative gene mutations identified by sequencing technology in Syrian families. It is obvious from the results that the testing for the m.1555A > G mutation is useful for diagnosis of hearing loss in Syrian patients and should also be considered prior to treatment with aminoglycosides in predisposed individuals.
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