Autosomal Recessive Deafness

08/01/2004 - "Our study conducted on 39 children with pre-lingual bilateral sensorineural autosomal recessive deafness showed as follows: (I) from a molecular perspective: an incidence of 41% in the cases studied of mutations in the encoding of the connexin 26 gene; a prevalence in our case study of the 35delG mutation (69%). "
06/01/2010 - "[Aberrant expression pattern of a novel mutation in connexin 26 gene resulting in autosomal recessive deafness]."
08/01/2007 - "On this basis, we reassigned affectation status and identified a p.Cys1837Arg autosomal dominant mutation in alpha-tectorin segregating in all family members except two persons, who segregated autosomal recessive deafness caused by p.Val37Ile and p.Leu90Pro mutations in Connexin 26. "
02/01/2007 - "Connexin 26 mutations in autosomal recessive deafness disorders: a review."
06/01/2006 - "A frequent form of autosomal recessive deafness is due to mutations in the connexin 26 gene. "

09/01/2019 - "The aim of the present study was to elucidate the role of the non‑syndromic autosomal recessive deafness 12 allelic variant of cadherin 23 (CDH23) in Chinese patients with non‑syndromic hearing loss. "
01/01/2001 - "Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23."

01/01/2008 - "TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness."
11/01/2002 - "TMPRSS3 encodes a transmembrane serine protease that contains both LDLRA and SRCR domains and is mutated in non-syndromic autosomal recessive deafness (DFNB8/10). "
05/13/2011 - "Mutations in the type II transmembrane serine protease 3 (TMPRSS3) gene cause non-syndromic autosomal recessive deafness (DFNB8/10), characterized by congenital or childhood onset bilateral profound hearing loss. "
06/01/2007 - "Mutations in the transmembrane protease, serine 3 (TMPRSS3) gene, encoding a transmembrane serine protease, cause autosomal recessive deafness childhood (DFNB8) or congenital onset (DFNB10). "

02/01/2019 - "This deletion may reveal a new contiguous deletion syndrome in which ELMOD3, known to be implicated in autosomal recessive deafness underlies the HI of the proband and CAPG, member of actin regulatory proteins involved in cytoskeletal dynamic, an important function for brain development and activity, underlies the ASD/ID phenotype. "
01/01/2007 - "Mutations in the GJB2 gene, which encodes the protein connexin 26, are a major cause of autosomal recessive deafness. "
12/01/2004 - "The most common form of non-syndromic autosomal recessive deafness (NSRD) is caused by mutations in the gene GJB2, encoding the protein connexin 26 (Cx26). "

06/01/2010 - "A novel nonsense mutation c.465T>A, p.Y155X in the CX26 gene was found in the autosomal recessive deafness family. "
12/01/2004 - "465T-->A nonsense mutation that is associated to autosomal recessive deafness is a novel mutation found by this screening. "

11/01/2006 - "Mutations in the DFNB1 locus, where two connexin genes are located (GJB2 and GJB6), account for half of congenital cases of nonsyndromic autosomal recessive deafness. "
01/01/2001 - "Mutations in the gene encoding the gap-junction protein connexin 26 (GJB2) on chromosome 13q11 (DFNB1 locus) have been shown as a major contributor to prelingual, non-syndromic, autosomal recessive deafness in Caucasian populations. "

01/01/2002 - "After validation, we have used it to investigate DNA samples from 160 control subjects and 51 unrelated patients with nonsyndromic autosomal recessive deafness. "
04/01/2001 - "After validating the test using quality control DNA samples, which contained the 35delG mutation in either homozygous or heterozygous form, 120 healthy subjects and 35 unrelated Omani patients with nosyndromic autosomal recessive deafness (NARD), were screened for 35delG mutation. "

08/15/2003 - "Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration."
01/12/2001 - "Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29."

08/28/2001 - "Their functional importance is demonstrated by mutations in claudin genes that eliminate tight junctions in myelin and the testis, abolish Mg(2+) resorption in the kidney, and cause autosomal recessive deafness. "

12/01/2008 - "Rab8b GTPase, a protein transport regulator, is an interacting partner of otoferlin, defective in a human autosomal recessive deafness form."