Andreja Bajič
Zdravstveni dom Kranj, Kranj, Slovenija

Alenka Erjavec Škerget
PAZU Pomurska akademsko znanstvena unija, Murska Sobota, Slovenia

Boris Zagradišnik
Klinični inštitut za genetsko diagnostiko, UKC Maribor, Maribor, Slovenia

Janez Rebol
Klinični oddelek za otorinolaringologijo, UKC Maribor, Maribor, Slovenia

Danijela Krgović
Klinični inštitut za genetsko diagnostiko, UKC Maribor, Maribor, Slovenia in Medicinska fakulteta Maribor, Maribor, Slovenia

Nadja Kokalj Vokač
Klinični inštitut za genetsko diagnostiko, UKC Maribor, Maribor, Slovenia in Medicinska fakulteta Maribor, Maribor, Slovenia

Abstract

The diagnosis of OTOF-related deafness is confirmed by the identification of biallelic pathogenic variants in the OTOF gene. In this case report, we describe the clinical characteristics and molecular findings of a ten-year-old hearing-im-paired boy in whom we identified a homozygous missense variant in the OTOF gene. ARMS-PCR for the detection of the c.35delG mutation revealed the presence of a heterozygous frameshift variant in the GJB2 gene in the proband, inherited from his mother. Next-generation sequencing identified a homozygous missense variant, c.2464C>T, of uncertain significance in the OTOF gene. Family segregation analysis of this variant in our proband is also presented in this case report. Our case highlights the possibility that the c.2464C>T variant in the OTOF gene may be causative of prelingual, non-syndromic sensorineural deafness.

Key words: otoferlin, missense variant, non-syndromic autosomal recessive deafness