2024
DOI: 10.21203/rs.3.rs-3829481/v1
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The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates

Karen Liddle,
Rebecca Kriukelis,
Michael Gabbett
et al.

Abstract: Guidelines recommend GJB2 (connexin 26) and GJB6 (connexin 30) testing for bilateral non-syndromic sensorineural hearing loss (SNHL). However, associated audiological phenotypes vary. There is limited Australian data on GJB2 variant frequency and associated phenotypes. Audiograms from a paediatric cohort with SNHL, predominantly identified through newborn hearing screening and carrying GJB2 variants and/or a GJB6 deletion (GJB6-D13S11830) were retrospectively reviewed (n = 127). Two thirds were homozygous or c… Show more

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