Perrault Syndrome Type 2 via the HARS2 Gene

Females presenting with hearing loss and ovarian failure or infertility, as well as males diagnosed with hearing loss can be offered the HARS2 gene test. The individual should have completed otologic and audiologic tests, as well as ancillary testing such as CT imaging of the inner ear to determine the characteristic abnormality involving the temporal bone (Kumar et al. 2003; Altay et al. 2008). Audioprofiling may also assist in determining the rate of progressive hearing loss each year. Cascade testing or successive testing of family members to trace the inheritance pattern of the identified mutation may be offered. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in HARS2.