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Variants in CIB2 cause DFNB48 and not USH1J
Author(s) -
Booth K.T.,
Kahrizi K.,
Babanejad M.,
Daghagh H.,
Bademci G.,
Arzhangi S.,
Zareabdollahi D.,
Duman D.,
ElAmraoui A.,
Tekin M.,
Najmabadi H.,
Azaiez H.,
Smith R.J.
Publication year - 2018
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13170
Subject(s) - genetics , frameshift mutation , hearing loss , missense mutation , biology , phenotype , locus (genetics) , loss function , gene , genetic heterogeneity , medicine , audiology
The mutational spectrum of CIB2 includes missense, nonsense, splice‐site, frameshift and copy number variants. Regardless of variant‐type, location or combination, all pathogenic variants in CIB2 in our multi‐ethnic cohort resulted in non‐syndromic deafness.