Connexin: Difference between revisions

← Older edit Newer edit →

Proteopedia Page Contributors and Editors (what is this?)Proteopedia Page Contributors and Editors (what is this?)

Doaa Naffaa, Safaa Salah Hussiesy, Michal Harel, Jaime Prilusky

Revision as of 11:26, 2 August 2015 view source Safaa Salah Hussiesy (talk \| contribs) 177 edits No edit summary ← Older edit		Revision as of 11:28, 2 August 2015 view source Safaa Salah Hussiesy (talk \| contribs) 177 edits No edit summary Newer edit →
Line 12:		Line 12:

	==Phenotypic results of mutations in connexin 26==		==Phenotypic results of mutations in connexin 26==
	Mutations in human Connexin 26 (hCx26) can lead to [http://en.wikipedia.org/wiki/Congenital_hearing_loss congenital hearing loss] (uptodate reference PMID 25153233) (1 child per 1000 frequency) that can be syndromic or non-syndromic. Non-syndromic hearing loss (NSHL) is characterized by sensorineural hearing loss in the absence of other symptoms, while syndromic hearing loss affects other organ systems, primarily the skin. mutations in GJB2 (the gene that encodes for Cx26) account for about half of all congenital and autosomal recessive nonsyndromic hearing loss in every population tested . Although the most frequently occurring (NSHL) mutations produce severely truncated proteins due to frameshift or missense, almost 80% of the known deafness mutations are actually single amino acid changes or deletions. These mutations have been found across the entire sequence of Cx26. The majority of NSHL mutations cause either generalized folding problems that result in the failure of Cx26 to traffic to the cell surface, or are permissive for the formation of gap junction plaques, but prevent intercellular channel function.<ref name='mutant int'>pmid 23967136</ref>		Mutations in human Connexin 26 (hCx26) can lead to [http://en.wikipedia.org/wiki/Congenital_hearing_loss congenital hearing loss] (uptodate reference PMID 25153233)<ref>pmid 25153233</ref> (1 child per 1000 frequency) that can be syndromic or non-syndromic. Non-syndromic hearing loss (NSHL) is characterized by sensorineural hearing loss in the absence of other symptoms, while syndromic hearing loss affects other organ systems, primarily the skin. mutations in GJB2 (the gene that encodes for Cx26) account for about half of all congenital and autosomal recessive nonsyndromic hearing loss in every population tested . Although the most frequently occurring (NSHL) mutations produce severely truncated proteins due to frameshift or missense, almost 80% of the known deafness mutations are actually single amino acid changes or deletions. These mutations have been found across the entire sequence of Cx26. The majority of NSHL mutations cause either generalized folding problems that result in the failure of Cx26 to traffic to the cell surface, or are permissive for the formation of gap junction plaques, but prevent intercellular channel function.<ref name='mutant int'>pmid 23967136</ref>