SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa
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چکیده
منابع مشابه
TJP2 Gene Mutation c.G1012A May Responsible for Congenital Hearing Loss with Incomplete Penetrance in An Iranian Pedigree
Hereditary hearing loss (HHL) comprises half of the congenital deafness which arises from genetic mutations. Mutations in the TJP2 gene, encoding tight junction protein 2, are one of the gene alterations in HHL resulting in an autosomal dominant nonsyndromic form of the disease. An 11-year-old male patient with clinically approved congenital hearing loss was referred to our laboratory....
متن کاملRelative Frequency of 35delG Mutation in GJB2 Gene in Autosomal Recessive Non-Syndromic Hearing Loss (ARNSHL) Patients in Kerman Population
Congenital hearing loss with many genetic and environmental causes affects 1 in 1000 newborns. Mutations in the GJB2(Gap Junction Beta-2) gene encoding the gap junction protein connexin 26 have been established as the main cause of autosomal recessive non-syndromic hearing loss. The aim of this study was to study the frequency of one mutation (35delG) of GJB2 gene in Kerman non-syndromic deaf p...
متن کاملStudy of frequency and spectrum of GJB2 gene mutations in non-syndromic hearing loss patients of Semnan province
Abstract Background and aim: The frequency of hearing impairment is one out of 500 newborn babies, worldwide. However, in Iran, due to the high prevalence of consanguineous marriages, this amount is estimated to be two to three times higher. So far, more than 120 genes causing non-syndromic Hearing loss (NSHL) have been identified in the world, of which GJB2 gene mutations are the most common c...
متن کاملNew mutation haplotypes in non-syndromic hearing loss.
2. Ganz JC. The lucid interval associated with epidural bleeding: evolving understanding. J Neurosurg. 2013;118:739-45. 3. Malik NK, Makhdoomi R, Indira B, Shankar S, Sastry K. Posterior fossa extradural hematoma: our experience and review of the literature. Surg Neurol. 2007;68:155-8. 4. Su T, Lee T, Lee T, Cheng C, Lu C. Acute Clinical Deterioration of posterior fossa epidural hematoma: Clini...
متن کاملMitochondrial gene mutation screening in hearing loss patients, Hormozgan, Iran
Introduction: Hearing loss is the most frequent sensory disorder occurs in 1/1000 newborns. About 50% of hearing loss cases are due to genetic causes. Mutation in MTRNR1(A1555G), MTTL1(A3243G) and MTTS1(A7445G) are known to be one of the important cause of nonsyndromic Sensorineural hearing loos in some populations. This study aims to demonstrate the frequency of three mitochondrial mutatio...
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ژورنال
عنوان ژورنال: Frontiers in Genetics
سال: 2021
ISSN: 1664-8021
DOI: 10.3389/fgene.2021.606630