Table 2.

Phenotypes of hearing impaired carriers of SLC26A5 IVS2-2A>G.

Case	Type of Hearing Loss; Age at onset	Associated Anomalies	Family History	Ethnicity	GJB2, GJB6, 12S rRNA
1	Profound sensorineural on right, severe conductive on left; Congenital	Internal auditory canal hypoplasia, hypoplastic vestibulocochlear nerve on right; External auditory canal atresia, malformed ossicles on left	None reported	Hispanic	Heterozygous GJB2 V27I polymorphism, no mutations or other variants found
2	Severe to profound on right, moderate to severe on left, mixed, progressive; Early childhood, sudden, with head trauma and ear infection	Bilateral enlarged vestibular aqueducts; Disequilibrium; History of ear infections and possible meningitis	None reported	Caucasian	No mutations or variants found
3	Moderate to severe, bilateral, sloping audiogram, sensorineural, progressive; Childhood to young adulthood	None	Consistent with autosomal dominant inheritance	Caucasian	No mutations or variants found
4	Moderate on right, mild to moderate on left, sensorineural, progressive; Childhood	None	Hearing impaired sibling (progressive, mild on right, mild to moderate on left, sensorineural; childhood onset; renal malformation); hearing impaired grandparent (unknown severity, possibly noise-induced)	Uncertain: Caucasian/Mixed Caucasian	No mutations or variants found