Human mutation · 2003
The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria.
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Günther Barbara, Steiner Andrea, Nekahm-Heis Doris, Albegger Klaus, Zorowka Patrick, Utermann Gerd, Janecke Andreas
Аннотация
Recently, a 342-kb deletion involving GJB6 was associated with autosomal-recessive non-syndromic hearing loss (NSHL) and in combination with a GJB2 mutation with digenic NSHL. This deletion was the second most common mutation causing prelingual NSHL in Spain, and was frequently observed in patients from France and Israel. We screened 393 patients with NSHL being negative or heterozygous for GJB2 mutations for this GJB6 deletion using a multiplex PCR. Most patients were of Austrian (84.2%), and the other patients were of Turkish, Serbian, and Bosnian origin. None of these patients was carrying the deletion in GJB6 indicating that the occurrence of this deletion is restricted to certain populations.