Mutations in the GJB6
gene cause HED, hereditary autosomal dominant non-syndromic deafness, and keratitis-ichthyosis-deafness syndrome.
HidED is caused by mutations in the GJB6
gene, located on chromosome 13 (locus 13q12), which encodes connexin-30, a component of intercellular gap junctions.
Also, mutation of GJB6
, coding for connexin 30, has been reported to be associated to hearing dysfunction (ARNSHL DFNB1B).
Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6
For this study, the researchers targeted the most common form of congenital deafness in children, which is caused by the genetic mutation of GJB2 and GJB6
4) confirmed that DEFA6, B-cell CLL/lymphoma 11A (BCL11A), interleukin 33 (IL33), BMP7, ATP binding cassette subfamily B member 1 (ABCB1), CCND2, TNFRSF1B, fibronectin 1 (FN1), semaphorin 6A (SEMA6A), and galanin (GAL) were upregulated and that PDGFC, prostaglandin-endoperoxide synthase 2 (PTGS2), Wnt family member 11 (WNT11), transforming growth factor beta 2 (TGFB2), dickkopf WNT signaling pathway inhibitor 1 (DKK1), bone marrow stromal cell antigen 2 (BST2), GATA binding protein 2 (GATA2), gap junction protein beta 6 (GJB6
), SMARCA1, and ADAM metallopeptidase with thrombospondin type 1 motif 6 (ADAMTS6) were downregulated in CTC-MCC-41 cells compared with HT-29 cells.
Xia et al., "Frequency and distribution of GJB2 (connexin 26) and GJB6
(connexin 30) mutations in a large North American repository of deaf probands," Genetics in Medicine, vol.
The frequency of TMPRSS3 mutations in childhood ARNSHL cases was 12% (3/25) in Turkish families negative for GJB2 mutations ; 13.1% (5/38) in Slovenian ARNSHL patients negative for GJB2, GJB6
, and mitochondrial A1555G mutations ; and 0.45% (2/448) in a European population with childhood deafness negative for the GJB2 35delG mutation .
Little to no expression was observed at any time point in either the biopaper or PET coculture systems for genes gap junction [beta]4 (GJB4), gap junction [beta]6 (GJB6
), tight junction protein 3 (TJP3), and claudin 3 (CLDN3) (Table 2).
No mutations in connexin genes GJB2, GJB6
or GJA1 among Cameroonians and Xhosa South Africans
EMQN,(38) 2012 Disease-specific schemes: Y-chromosome microdeletions, BRCA1 and BRCA2, CAH, CMT, Familial Adenomatous Polyposis Colon Cancer, GJB2 and GJB6
, HNPCC, monogenic diabetes, Marfan syndrome, porphyria, hereditary recurrent fevers, myotonic dystrophy, Duchenne muscular dystrophy, fragile X syndrome, Friedreich ataxia, Huntington disease, hemochromatosis, multiple endocrine neoplasia type 2A, PKU, Prader-Willi/Angelman syndromes, retinoblastoma, short stature homeobox gene testing, spinocerebellar ataxia, spinal muscular atrophy, Von Hippel Lindau disease, Wilson disease.
, encoding gap junction protein 6 (con- nexin-30), is the only gene currently known to be associated with hidrotic ectodermal dysplasia 13,14.