Article
A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.
Clinical genetics - 1 Sept 2010
Wilch E, Azaiez H, Fisher R A, Elfenbein J, Murgia A, Birkenhäger R, Bolz H, Da Silva-Costa S M, Del Castillo I, Haaf T, Hoefsloot L, Kremer H, Kubisch C, Le Marechal C, Pandya A, Sartorato E L, Schneider E, Van Camp G, Wuyts W, Smith R J H, Friderici K H
Abstract excerpt
Eleven affected members of a large German-American family segregating recessively inherited, congenital, non-syndromic sensorineural hearing loss (SNHL) were found to be homozygous for the common 35delG mutation of GJB2, the gene encoding the gap junction protein Connexin 26. Surprisingly, four additional family members with bilateral profound SNHL carried only a single 35delG mutation. Previously, we...
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