Article
Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions.
Journal of human genetics - 1 Aug 2017
Bliznetz Elena A, Lalayants Maria R, Markova Tatiana G, Balanovsky Oleg P, Balanovska Elena V, Skhalyakho Roza A, Pocheshkhova Elvira A, Nikitina Natalya V, Voronin Sergey V, Kudryashova Elena K, Glotov Oleg S, Polyakov Alexander V
Abstract excerpt
Although mutations in the GJB2 gene sequence make up the majority of variants causing autosomal-recessive non-syndromic hearing loss, few large deletions have been shown to contribute to DFNB1 deafness. Currently, genetic testing for DFNB1 hearing loss includes GJB2 sequencing and DFNB1 deletion analysis for two common large deletions, del(GJB6-D13S1830) and del(GJB6-D13S1854). Here, we report frequency in...
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