Table 4.

Selected Genes of Interest in the Differential Diagnosis of Nonsyndromic Mild-to-Moderate STRC-Related Autosomal Recessive Hearing Loss

Gene(s)DisorderMOIComment
GJB2 GJB2-related AR NSHL AR
  • Most common genetic cause of congenital severe-to-profound non-progressive sensorineural HL in many world populations
  • Some GJB2 pathogenic variants are assoc w/mild-to-moderate HL.
ADGRV1
USH2A
WHRN 		Usher syndrome type II AR
  • Usher syndrome overall (i.e., Usher syndrome types I, II, & III) is the most common type of AR syndromic HL & is a nonsyndromic HL mimic (HL is congenital w/later onset of retinitis pigmentosa in adolescence or early adulthood).
  • Usher syndrome type II is assoc w/congenital, bilateral sensorineural HL that is mild to moderate in the low frequencies & severe to profound in the high frequencies.
OTOA Nonsyndromic hearing loss (OMIM 607039)AR
  • May be assoc w/mid-frequency HL in moderate range (but is often severe to profound)
  • Gene deletions are common causative variants.
OTOG
OTOGL 		Nonsyndromic hearing loss (OMIM 614944)AR
  • Non-progressive moderate HL
  • Occasional vestibular hypofunction

AD = autosomal dominant; AR = autosomal recessive; NSHL = nonsyndromic hearing loss; HL = hearing loss; MOI = mode of inheritance; XL = X-linked

From: STRC-Related Autosomal Recessive Hearing Loss

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