Novel MYO15A variants are associated with hearing loss in the two Iranian pedigrees
نویسندگان
چکیده
منابع مشابه
Is Sudden Hearing Loss Associated with Atherosclerosis?
Introduction: Sudden sensorineural hearing-loss (SSNHL) patients constitute approximately 2–3% of referrals to ear, nose and throat (ENT) clinics. Several predisposing factors have been proposed for this condition; one of which is vascular disorders and perfusion compromise. In this research the atherosclerotic changes and their known risk factors are studied in SSNHL patients. Materials and ...
متن کاملIdentification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss
Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous sensorineural disorder, generally manifested with prelingual hearing loss and absence of other clinical manifestations. The aim of this study is to identify the pathogenic gene in a four-generation consanguineous Chinese family with ARNSHL. A novel homozygous variant, c.9316dupC (p.H3106Pfs*2), in the myoxin X...
متن کاملTwo Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.
Mutations in GJB2, encoding connexin 26 (Cx26), cause both autosomal dominant and autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNA3 and DFNB1 loci, respectively. Most of the over 100 described GJB2 mutations cause ARNSHL. Only a minority has been associated with autosomal dominant hearing loss. In this study, we present two families with autosomal dominant nonsyndromic hearing...
متن کاملThe worldwide frequency of MYO15A gene mutations in patients with autosomal recessive non-syndromic hearing loss: A meta‐analysis
MYO15A is the third most crucial gene in hereditary sensorineural hearing loss after GJB2 and SLC26A4. In the present study, we reviewed the prevalence of MYO15A mutations in patients with autosomal recessive non-syndromic hearing loss (ARNSHL). In this meta-analysis, we conducted a search of PubMed, Web of Science, Excerpta Medica Database, and Scopus, and identified the articles up to Septemb...
متن کاملGenetic variants associated with cisplatin-induced hearing loss.
Although there are many factors that contribute to a patient’s response to therapy, genetic factors account for a significant proportion of variability in drug response and are estimated to play a role in at least half of all adverse drug reactions (ADRs) (1). Genetic variability in drug metabolizing enzymes and transport systems involved in absorption, distribution, excretion and metabolism ma...
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ژورنال
عنوان ژورنال: BMC Medical Genetics
سال: 2020
ISSN: 1471-2350
DOI: 10.1186/s12881-020-01168-x