Condition: Palmoplantar Keratoderma with Deafness
rs104894402 in
GJB2 gene and
Palmoplantar Keratoderma with Deafness
PMID 10757647 2000 Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.
PMID 12668604 2003 Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.
PMID 17993581 2008 A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness.
PMID 9856479 1998 Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.
PMID 15996214 2005 Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss.
PMID 10633135 2000 A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350).
PMID 12372058 2002 The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family.
PMID 17666888 2007 A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
PMID 10713883 2000 High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG.
PMID 10376574 1999 Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.
PMID 12172392 2002 GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.
PMID 9336442 1997 Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.
PMID 18294064 2007 Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates.
PMID 9328482 1997 Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.
PMID 9285800 1997 Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.