نتایج جستجو برای: nonsyndromic deafness

تعداد نتایج: 9132  

2016
Penghui Chen Longxia He Xiuhong Pang Xiaowen Wang Tao Yang Hao Wu

Nonsyndromic deafness is genetically heterogeneous but phenotypically similar among many cases. Though a variety of targeted next-generation sequencing (NGS) panels has been recently developed to facilitate genetic screening of nonsyndromic deafness, some syndromic deafness genes outside the panels may lead to clinical phenotypes similar to nonsyndromic deafness. In this study, we performed com...

Journal: :American journal of human genetics 2009
Saima Riazuddin Saima Anwar Martin Fischer Zubair M Ahmed Shahid Y Khan Audrey G H Janssen Ahmad U Zafar Ute Scholl Tayyab Husnain Inna A Belyantseva Penelope L Friedman Sheikh Riazuddin Thomas B Friedman Christoph Fahlke

BSND encodes barttin, an accessory subunit of renal and inner ear chloride channels. To date, all mutations of BSND have been shown to cause Bartter syndrome type IV, characterized by significant renal abnormalities and deafness. We identified a BSND mutation (p.I12T) in four kindreds segregating nonsyndromic deafness linked to a 4.04-cM interval on chromosome 1p32.3. The functional consequence...

Journal: :American journal of human genetics 2002
L M Astuto J M Bork M D Weston J W Askew R R Fields D J Orten S J Ohliger S Riazuddin R J Morell S Khan H Kremer P van Hauwe C G Moller C W R J Cremers C Ayuso J R Heckenlively K Rohrschneider U Spandau J Greenberg R Ramesar W Reardon P Bitoun J Millan R Legge T B Friedman W J Kimberling

Usher syndrome type I is characterized by congenital hearing loss, retinitis pigmentosa (RP), and variable vestibular areflexia. Usher syndrome type ID, one of seven Usher syndrome type I genetic localizations, have been mapped to a chromosomal interval that overlaps with a nonsyndromic-deafness localization, DFNB12. Mutations in CDH23, a gene that encodes a putative cell-adhesion protein with ...

Journal: :The Open Biology Journal 2009

2018
Haiqiong Shang Denise Yan Naeimeh Tayebi Kolsoum Saeidi Afsaneh Sahebalzamani Yong Feng Susan Blanton Xuezhong Liu

Hearing loss (HL) is a common sensory disorder in humans with high genetic heterogeneity. To date, over 145 loci have been identified to cause nonsyndromic deafness. Furthermore, there are countless families unsuitable for the conventional linkage analysis. In the present study, we used a custom capture panel (MiamiOtoGenes) to target sequence 180 deafness-associated genes in 5 GJB2 negative de...

Journal: :genetics in the 3rd millennium 0
fatemeh ostaresh reihaneh hadji-alikhani, mojgan babanejad niloofar bazazzadegan nooshin nikzat hossein najmabadi

hearing loss (hl) is the most frequent sensory defect present in 1 of every 500 newborns. in developed countries, at least 50% of cases are caused genetic factors, most often resulting in nonsyndromic hl (70%), which is usually autosomal recessive (80%). to date, fifty genes associated with autosomal recessive non-syndromic hearing loss (arnshl) have been reported.  the aim of this study was to...

Journal: :Mutation research 2009
Nele Hilgert Richard J H Smith Guy Van Camp

Hearing impairment is the most common sensory disorder, present in 1 of every 500 newborns. With 46 genes implicated in nonsyndromic hearing loss, it is also an extremely heterogeneous trait. Here, we categorize for the first time all mutations reported in nonsyndromic deafness genes, both worldwide and more specifically in Caucasians. The most frequent genes implicated in autosomal recessive n...

2009
Masyita Gaffar Freddy G. Kuhuwael Irawan Yusuf

Background: Inherited hearing impairment affects about 1 in 1000 newborns. Up to 50 percent of all patients with autosomal recessive nonsyndromic prelingual deafness in many populations have mutations in the gene encoding the gap junction protein connexin 26 (GJB2) at locus DFNB1 (autosomal recessive nonsyndromic deafness) on chromosome 13q11-12. In East Asia, there is a common mutation (235del...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2009
Martin Schwander Wei Xiong Joshua Tokita Andrea Lelli Heather M Elledge Piotr Kazmierczak Anna Sczaniecka Anand Kolatkar Tim Wiltshire Peter Kuhn Jeffrey R Holt Bechara Kachar Lisa Tarantino Ulrich Müller

Deafness is the most common form of sensory impairment in humans and is frequently caused by single gene mutations. Interestingly, different mutations in a gene can cause syndromic and nonsyndromic forms of deafness, as well as progressive and age-related hearing loss. We provide here an explanation for the phenotypic variability associated with mutations in the cadherin 23 gene (CDH23). CDH23 ...

Journal: :Journal of the American Academy of Audiology 2003
Stacy S Drury Bronya J B Keats

Mouse models for human deafness have not only proven instrumental in the identification of genes for hereditary hearing loss, but are excellent model systems in which to examine gene function as well as the resulting pathophysiology. One mouse model for human nonsyndromic deafness is the deafness (dn) mouse, a spontaneous mutation in the curly-tail (ct) stock. The dn gene is on mouse Chromosome...

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