نتایج جستجو برای: autosomal recessive non syndromic hearing loss
تعداد نتایج: 1782138 فیلتر نتایج به سال:
Background and purpose: Microcephaly is reduced head circumference more than two standard deviation below the mean for the age and sex. Genetic microcephaly disorder is divided into two categories; isolated and syndromic microcephaly. The incidence of autosomal recessive primary microcephaly in consanguineous population is more than that in non-consanguineous population. So far, few studies are...
Hearing Loss (HL) represents high genetic heterogeneity with an incidence of almost 1 out of 500 newborns in most populations. Approximately half of the cases have a genetic basis that most of them are autosomal recessive non-syndromic (ARNSHL) with DFNB1-related defect in many worldwide populations. Given the heterogeneity of the trait together with the unique infrastructure of Iranian populat...
Hearing loss is the most common sensory deficit in humans and gaining a better understanding of the underlying causes is necessary to improve counseling and rehabilitation. In the present study, a genetic analysis of a Chinese family with autosomal dominant non‑syndromic progressive hearing impairment was conducted and assessed. Whole‑exome sequencing in combination with a co‑segregation analys...
Mutations in PTPRQ are associated with deafness in humans due to defects of stereocilia in hair cells. Using whole exome sequencing, we identified responsible gene of family 1572 with autosomal recessively non-syndromic hearing loss (ARNSHL). We also used DNA from 74 familial patients with ARNSHL and 656 ethnically matched control chromosomes to perform extended variant analysis. We identified ...
BACKGROUND Tonotopy is one of the most fundamental principles of auditory function. While gradients in various morphological and physiological characteristics of the cochlea have been reported, little information is available on gradient patterns of gene expression. In addition, the audiograms in autosomal dominant non syndromic hearing loss can be distinctive, however, the mechanism that accou...
هدف: کاهش شنوایی 1 نفر از هر 1000 تا 2000 کودک تازه متولد شده را تحت تأثیر قرار می دهد. بیش از %50 از این موارد را به عوامل ژنتیکی نسبت می دهند. کاهش شنوایی غیرسندرمی بیش از 70 درصد از موارد ناشنوایی ارثی است که 85 درصد از آن را وراثت جسمی مغلوب دارند و تاکنون بیش از یک صد جایگاه (locus) برای این نوع ناشنوایی برآورد شده است. ژن های مختلفی با این ناشنوایی در ارتباط هستند که عمده ترین آنها جهش در...
conclusions more studies are needed to investigate the relationship between other parts of this gene with hearing loss in different populations through the country. more research could clarify the role of this gene and its relation with deafness and provide essential information for the prevention and management of auditory disorders caused by genetic factors in the iranian population. backgrou...
Mutations in the GJB2 gene (connexin 26) represent a major cause of autosomal recessive non-syndromic hearing loss (NSHL) worldwide. In most Caucasian populations, the 35delG mutation in this gene was found to account for up to 50% of cases of the genetic non-syndromic childhood deafness. In populations of non-European ethnic background, other GJB2 gene mutations are occasionally common, e.g. 1...
The frequency and distribution of genetic mutations that cause deafness differ significantly according to ethnic group and region. Zhejiang is a province in the southeast of China, with an exceptional racial composition of the population caused by mass migration in ancient China. The purpose of the present study was to investigate the prevalence and spectrum of gap junction‑β2 (GJB2), solute ca...
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