AI Article Synopsis
- Hearing loss is a prevalent issue in Iran, particularly autosomal recessive non-syndromic hearing loss (ARNSHL), which has over 70 identified genetic causes and is influenced by high rates of familial marriage.
- A study used whole exome sequencing (WES) on eight severe cases of nonsyndromic hearing loss, revealing 10 mutations across 7 different genes, with seven unique mutations found in seven families.
- The study concluded that WES effectively identified causal mutations in ARNSHL cases, suggesting that broader meta-analyses could help pinpoint common mutations linked to deafness in various populations.
Article Abstract
Background: Hearing loss is the second most common disease after mental retardation in Iran. Autosomal recessive non-syndromic hearing loss (ARNSHL) is an extreme and highly heterogeneous disease, for which more than 70 genes have been identified. Considering the frequency of family marriage as well as the importance of ARNSHL in Iran, we evaluated the genetic factors involved in this type of deafness.
Methods: We performed the whole exome sequencing (WES) of eight Iranian subjects with severe nonsyndromic hearing loss selected from 110 well-characterized subjects with non-syndromic hearing loss from 2017-2019. The patients with mutated and genes were excluded from the study.
Results: The use of the whole exome sequencing method revealed 10 different mutations in 7 genes, including c.1234G>T), (c.45DelC, c.466T>C), (c.12528-2A>C, c.16226-16227insAGTC), (c.7454delG), (c.3570+2T>C), (c.992G>A), (c.2359G>T, c.2353A>C). Seven new variants were observed in seven families including (c.1234G>T), (c.45DelC), (c.12528-2A>C), (c.7454delG), (c.16226-16227insAGTC), (c.3570+2T>C).
Conclusion: The causal mutation of ARNSHL was found in all patients using the WES. Meta-analysis studies can help to identify common mutations causing deafness in any population to facilitate identification of carriers and subjects with deafness.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11182469 | PMC |
| http://dx.doi.org/10.18502/ijph.v53i2.14930 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
[A case of rare hereditary Siddiqi syndrome with novel neuropsychiatric signs].
Zh Nevrol Psikhiatr Im S S Korsakova
December 2024
Bochkov Research Centre for Medical Genetics, Moscow, Russia.
A fifth world case of autosomal recessive Siddiqi syndrome (SIDDIS) related to ene is presented. In a consanguineous Lezgin (a Dagestan ethnicity) family, there were two affected brothers aged 28 yrs (proband, personally examined) and 32 yrs. Whole-exome sequencing followed by familial Sanger sequencing detected a novel missence variant c.
View Article and Find Full Text PDF[Ototoxicity caused by anti-epileptic drugs].
Zh Nevrol Psikhiatr Im S S Korsakova
December 2024
Federal Center of Brain Research and Neurotechnologies, Moscow, Russia.
According to the literature, a number of anti-epileptic drugs (AEDs) have an ototoxic effect. The mechanism of hearing dysfunction due to the use of AEDs is not well known. The main clinical manifestations of the cochleotoxic effect of the drugs are: tinnitus, sensorineural hearing loss, impaired pitch perception, hyperacusis.
View Article and Find Full Text PDFSensory neuropathy in patients with Pompe disease: a case series in Iran.
BMC Musculoskelet Disord
December 2024
Physical medicine & rehabilitation research center, School of medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Background: Pompe disease is a glycogen storage disease primarily affecting striated muscles. Despite its main manifestation in muscles, patients with Pompe disease may exhibit non-muscle symptoms, such as hearing loss, suggesting potential involvement of sensory organs or the nervous system due to glycogen accumulation.
Aims: This study aimed to evaluate the presence of concomitant small and large fiber neuropathy in patients with Pompe disease.
Conductive hearing loss does not affect spatial learning and memory in middle-aged guinea pigs.
Sci Rep
December 2024
School of Human Sciences, University of Western Australia, Crawley, WA, 6009, Australia.
Hearing loss (HL) in mid-life has been suggested as a risk factor for cognitive decline. It is unclear whether this relationship is due to deprivation of auditory input alone, degenerative processes, or a combination. Animal models are useful to investigate underlying neural mechanisms as human studies can be confounded by various factors.
View Article and Find Full Text PDFAn investigation into the health status of the elderly population in China and the obstacles to achieving healthy aging.
Sci Rep
December 2024
National Center for Chronic and Noncommunicable Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing, China.
The phenomenon of population aging in China has evolved into an irreversible trend. The state places significant emphasis on the health-related initiatives for the elderly and has implemented pertinent policies. This study aims to identify the primary health issues affecting the elderly population in China, ascertain the key risk factors influencing their health, and offer a scientific foundation for the government to develop ongoing policies and strategies, as well as to allocate health resources efficiently.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!