نتایج جستجو برای: nonsyndromic deafness
تعداد نتایج: 9132 فیلتر نتایج به سال:
Previous studies have linked GJB2 gene and mitochondrial DNA (mtDNA) mutations to nonsyndromic hearing impairment (NSHI), but no study in China has yet investigated these mutations across all age groups. To fill the gap, this study ascertained 263 patients with NSHI between ages 2 months and 60 years and analyzed the presence of GJB2 gene and mtDNA A1555G/C1494T mutations by polymerase chain re...
OBJECTIVE To investigate the molecular etiologic causes of sporadic nonsyndromic hearing loss in Chinese children. METHODS 179 sporadic nonsyndromic hearing loss children were subjected to microarray-based mutation detection for nine hot spot mutations in four of the most common deafness-related genes, including GJB2, SLC26A4, GJB3, and 12s rRNA. RESULTS The incidence of positive genetic er...
Hereditary deafness affects approximately 1 in 2,000 children. Mutations in the gene encoding the cochlear gap junction protein connexin 26 (CX26) cause prelingual, nonsyndromic deafness and are responsible for as many as 50% of hereditary deafness cases in certain populations. Connexin-associated deafness is thought to be the result of defective development of auditory sensory epithelium due t...
The P2X2 receptor is an ATP-gated ion channel, assembled by three subunits. Recently, it has been found that heterozygous mutations of P2X2 V60L and G353R can cause autosomal dominant nonsyndromic hearing loss. However, the underlying mechanism remains unclear. The fact that heterozygous mutations cause deafness suggests that the mutations may have dominant-negative effect (DNE) on wild-type (W...
Potassium channels regulate electrical signaling and the ionic composition of biological fluids. Mutations in the three known genes of the KCNQ branch of the K+ channel gene family underlie inherited cardiac arrhythmias (in some cases associated with deafness) and neonatal epilepsy. We have now cloned KCNQ4, a novel member of this branch. It maps to the DFNA2 locus for a form of nonsyndromic do...
We present general formulae for several common situations in the genetic counseling of heterogeneous disorders. The occurrence or not of parental consanguinity is taken into account, since it distorts significantly the prior probabilities favoring the different mechanisms. Nonsyndromic deafness is used as a numerical application, since it can be produced by any type of monogenic inheritance and...
1. Millan JM et al. An update on the genetics of usher syndrome. J Ophthalmol 2011: 2011: 417217. 2. Fettiplace R, Hackney CM. The sensory and motor roles of auditory hair cells. Nat Rev Neurosci 2006: 7: 19–29. 3. Riazuddin S. 2012. Alterations of the CIB2 calciumand integrinbinding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48 Nature Genetics. 2012: 44(11): 1265–1271.
Background & Aim: Hereditary hearing loss(HHL) affects one in 1000-2000 newborns and more than 50% of these cases have a genetic base. About 70% of HHL are nonsyndromic with autosomal recessive forms accounting for 85% of the genetic load. Different genes have been reported to be involved, but mutations in GJB2 gene at DFNB1 locus have been established as the basis of autosomal recessive no...
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