Clinical Guidance

STRC-related autosomal recessive hearing loss (STRC-HL) comprises both nonsyndromic sensorineural hearing loss and sensorineural hearing loss with decreased fertility in males when associated with biallelic contiguous gene deletions involving STRC and CATSPER2.

STRC-Related Autosomal Recessive Hearing Loss

STRC-HL is characterized by congenital bilateral symmetric mild-to-moderate hearing loss. Although STRC-HL is congenital, some individuals with biallelic pathogenic STRC variants may pass their newborn hearing screening (NBHS) due to the variability of NBHS methods, some of which may not detect milder hearing loss. Mean pure tone average at the time of the diagnosis of STRC-HL is approximately 40-50 decibels (dB).

Source: GeneReviews — "STRC-Related Autosomal Recessive Hearing Loss"

Differential Diagnosis

Autosomal recessive nonsyndromic hearing loss (AR NSHL). As of this writing, more than 75 genes have been associated with AR NSHL. Biallelic genetic alterations involving STRC are the most common cause of mild-to-moderate sensorineural hearing loss and the second most common cause of autosomal recessive hearing loss overall . See Genetic Hearing Loss Overview. lists selected genes of interest in the differential diagnosis of STRC-related autosomal recessive hearing loss; for a current, comprehensive list of all identified autosomal recessive nonsyndromic hearing loss genes, see Hereditary Hearing Loss Homepage. Table 4. Selected Genes of Interest in the Differential Diagnosis of Nonsyndromic Mild-to-Moderate STRC-Related Autosomal Recessive Hearing Loss

Source: GeneReviews — "STRC-Related Autosomal Recessive Hearing Loss"