A Novel Recurrent 200 kb <i>CRYL1</i> Deletion Underlies DFNB1A Hearing Loss in Patients from Northwestern Spain.

ABSTRACT:

Background/objectives

Pathogenic recessive GJB2 variants are the main genetic cause of non-syndromic sensorineural hearing loss. However, following GJB2 testing, a significant proportion of deaf patients are only found to be heterozygous carriers of pathogenic GJB2 alleles. Five large deletions not affecting GJB2 but encompassing a minimal common 62 kb region within the neighbouring CRYL1 gene have been described to cause loss of cis GJB2 expression and, as a result, produce hearing loss when in trans with pathogenic GJB2 variants. We describe the identification and characterization of a novel deletion of this type in deaf patients from northwestern Spain.

Methods

We used panel NGS sequencing to detect the deletion, MLP

SUBMITTER: Cifuentes GA 

PROVIDER: S-EPMC12191918 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature