Autosomal recessive nonsyndromic deafness genes: a review
نویسندگان
چکیده
منابع مشابه
Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss
Comprehensive genetic testing has the potential to become the standard of care for individuals with hearing loss. In this study, we investigated the genetic etiology of autosomal recessive nonsyndromic hearing loss (ARNSHL) in a Turkish cohort including individuals with cochlear implant, who had a pedigree suggestive of an autosomal recessive inheritance. A workflow including prescreening of GJ...
متن کاملAutosomal Recessive Nonsyndromic Hearing Loss: A Case Report with a Mutation in TRIOBP Gene
Hearing loss (HL) is the most common sensory defect. Various genetic as well as environmental factors have been shown to contribute in it. More than 100 loci have been recognized to cause autosomal recessive nonsyndromic hearing loss (ARNSHL). Here, we report a 6-year old female patient with bilateral pre-lingual HL in whom a mutation has been identified in TRIOBP gene (c.6362C>T, S2121L). In s...
متن کاملLocus for autosomal recessive nonsyndromic persistent hyperplastic primary vitreous.
PURPOSE To map the disease locus in a six-generation, consanguineous Pakistani family affected by nonsyndromic autosomal recessive persistent hyperplastic primary vitreous (arPHPV). All affected individuals had peripheral anterior synechiae and corneal opacities with variable degrees of cataract and a retrolenticular white mass behind the lens. METHODS Genomic DNA from family members was type...
متن کاملA Rapid and Cost-Effective Protocol for Screening Known Genes for Autosomal Recessive Deafness.
Hearing loss is one of the most common sensorineural defects in humans. Autosomal-recessive nonsyndromic hearing loss (ARNSHL) is the most frequent form among inherited forms of deafness and accounts for greater than 70% of the cases. Due to extreme genetic heterogeneity of ARNSHL, many known loci have to be screened to find linkage to deafness genes or before proceeding to a genome wide analys...
متن کاملMutations of ESPN cause autosomal recessive deafness and vestibular dysfunction.
We mapped a human deafness locus DFNB36 to chromosome 1p36.3 in two consanguineous families segregating recessively inherited deafness and vestibular areflexia. This phenotype co-segregates with either of two frameshift mutations, 1988delAGAG and 2469delGTCA, in ESPN, which encodes a calcium-insensitive actin-bundling protein called espin. A recessive mutation of ESPN is known to cause hearing ...
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ژورنال
عنوان ژورنال: Frontiers in Bioscience
سال: 2012
ISSN: 1093-9946,1093-4715
DOI: 10.2741/4046