Interestingly, his brother (II.1), besides being homozygous for the AGBL5 variant, also harbored a homozygous, likely pathogenic, nonsense variant (NM_016239.4:c.7121C>G, p.(Ser2374Ter)) in MYO15A, a gene associated with profound, congenital, nonsyndromic deafness (OMIM * 602666). Here, MYO15A is linked to deafness.