نتایج جستجو برای: gjb2 gene
تعداد نتایج: 1141753 فیلتر نتایج به سال:
OBJECTIVES The aim of this study was to detect the genetic cause of deafness in a large Iranian family. Due to the importance of SLC26A4 in causing hearing loss, information about the gene mutations can be beneficial in molecular detection and management of deaf patients. METHODS We investigated the genetic etiology in a large consanguineous family with 9 deaf patients from Fars province of I...
OBJECTIVE to determinate the role of heterozygosis of M34T mutation of GJB2 gene in non syndromic congenital deafness. METHODS retrospective study between March 2010 and June 2013. Molecular screening for 35delG and M34T mutations of the GJB2 gene was offered to all women undergoing to second trimester genetic amniocentesis. Patients were excluded from the study group if one of the following ...
PURPOSE The present study was initiated to establish the etiological causes of early onset hearing loss (HL) among Estonian children between 2000-2009. METHODS The study group consisted of 233 probands who were first tested with an arrayed primer extension assay, which covers 199 mutations in 7 genes (GJB2, GJB6, GJB3, SLC26A4, SLC26A5 genes, and two mitochondrial genes - 12S rRNA, tRNASer(UC...
Postnatal permanent childhood hearing impairment (PCHI) is frequent (0.25%-0.99%) and difficult to detect in the early stage, which may impede the speech, language and cognitive development of affected children. Genetic tests of common variants associated with postnatal PCHI in newborns may provide an efficient way to identify those at risk. In this study, we detected a strong association of th...
Hearing loss is one of the most common sensorineural disorder. More than half of congenital bilateral profound deafness cases have been estimated to be attributed to genetic cause. Identification of genetic cause can provide valuable information. We developed new diagnostic strategy combining phenotype-driven candidate gene approach and targeted exome sequencing to find out the causative mutati...
Individual's hearing performance after cochlear implant (CI) is variable and depends on different factors such as etiology of deafness, age at implantation, and social/family hearing environment. Here we report the case of dizygotic twins, boy and girl, presenting with neurosensorial profound deafness prior CI (age of implantation = 3.5 years old). Both parents have severe/profound deafness, si...
Keratitis-Ichthyosis-Deafness syndrome is a rare congenital disorder of the ectoderm caused by mutations in the connexin-26 gene (GJB2) on chromosome 13q11-q12, giving rise to keratitis, erythrokeratoderma and neurosensory deafness. We report the case of a 31-year-old black male diagnosed as having KID syndrome. Sequencing analysis showed a heterozygous missense mutation D50N (148G > A) in the ...
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