Table 1 Exome sequencing study subjects
Study number | Sex | Ethnicity | Age of onset | Level and type of hearing loss | Condition | Family history | Other findings | Sequence variation |
|---|---|---|---|---|---|---|---|---|
1 | M | Mexican | Congenital | Bilateral profound, sensorineural | Stable | Similarly affected sibling | None | GJB2, SLC26A4: negative |
2 | F | Native American | Congenital | Bilateral moderate, sensorineural | Unknown | Negative | None | GJB2: negative |
3 | F | East Asian | Age 9 | High frequency sensorineural hearing loss, left more severe | Unknown | Negative | None | GJB2 and GJB6: negative; SLC26A4: heterozygous for c.463 A > G, p.Met155Val (a novel variant of uncertain pathogenic significance) |
4 | M | Mexican | Congenital | Bilateral profound, sensorineural | Stable | Similarly affected sibling | None | GJB2 and GJB6: negative |
5 | M | Caucasian | Age 2 | Bilateral mild to moderate, sensorineural | Progressive | Mother with bilateral severe hearing loss, recognized around age 16 | None | GJB2: negative |
6 | F | Caucasian | Congenital | L - profound, R - moderate, sensorineural | Stable | Similarly affected sibling | None | GJB2: negative |
7 | M | Mexican | Congenital | Bilateral severe to profound, sensorineural | Stable | Negative | None | GJB2: negative |
8 | F | Caucasian-East Asian | Age 1 | L- severe, R - profound, sensorineural | Unknown | Unknown | None | GJB2: negative |
9 | M | Caucasian-African American | Congenital | L - moderate, mixed hearing loss, R - moderate, sensorineural | Stable | Negative | None | GJB2: negative |
10 | M | Mexican | Congenital | Bilateral moderate, sensorineural | Stable | Hearing of unknown etiology loss on paternal side | None | GJB2, SLC26A4: negative |
11 | F | Mexican | Congenital | Bilateral moderate, sensorineural | Stable | Negative | None | GJB2: negative |
12 | M | Caucasian | Congenital | Bilateral moderate, sensorineural | Stable | Negative | None | GJB2: negative |
13 | M | East Asian | After age 7, confirmed at age 14 | Bilateral profound, sensorineural | Progressive | Negative | None | GJB2: heterozygous for c.11G > A, p.Gly4Asp (a variant of uncertain pathogenic significance) |
F1.1 | M | Middle Eastern | N/A | N/A | Unaffected | Affected offspring | None; consanguineous | Â |
F1.2 | F | Middle Eastern | N/A | N/A | Unaffected | Affected offspring | None; consanguineous | Â |
F1.3 | M | Middle Eastern | Congenital | Bilateral severe to profound, sensorineural | Progressive | Proband with similarly affected siblings | Megalocornea with secondary glaucoma | GJB2 and GJB6: negative |
F1.4 | M | Middle Eastern | Congenital | Bilateral severe to profound, sensorineural | Progressive | Similarly affected siblings | Megalocornea with secondary glaucoma | Â |
F1.5 | F | Middle Eastern | Congenital | Bilateral severe to profound, sensorineural | Progressive | Similarly affected siblings | Megalocornea with secondary glaucoma | Â |
F2.1 | M | Caucasian | N/A | N/A | Unaffected | Affected offspring | None, normal chromosomes | Â |
F2.2 | F | Caucasian | N/A | N/A | Unaffected | Affected offspring | None, normal chromosomes | Â |
F2.3 | F | Caucasian | Congenital | Bilateral moderate, sensorineural | Stable | Proband with similarly affected identical twin | None | GJB2, GJB6, mitochondrial mutation panel: negative |
F2.4 | F | Caucasian | Congenital | Bilateral moderate, sensorineural | Stable | Similarly affected identical twin | None | GJB2, GJB6, mitochondrial mutation panel: negative |
F2.5 | M | Caucasian | Congenital | Bilateral moderate, sensorineural | Stable | Affected sibling | Multiple congenital abnormalities partial chromosome 7 deletion | GJB2, GJB6, mitochondrial mutation panel: negative |
F3.1 | M | Caucasian | N/A | N/A | Unaffected | Affected offspring | None | Â |
F3.2 | F | Caucasian | Unknown | Mild | Unknown | Affected offspring, affected mother | Mother reported to have a white forelock | Â |
F3.3 | M | Caucasian | Failed initial newborn screening but passed a rescreen. At age 3 mild to moderate hearing loss was identified | Bilateral mild to moderate | Progressive | Proband with similarly affected sibling, mildly affected mother and maternal grandmother | None | GJB2, GJB6, SLC26A4: negative |
F3.4 | M | Caucasian | Congenital | Bilateral mild to moderate | Progressive | Similarly affected sibling, mildly affected mother and maternal grandmother | None | Â |