Table 2 Non-audiological and inner ear abnormalities, including genetic findings in 29 patients.
Patient ID | Sex; Age (yr) | SNHL severity | Non-audiological symptoms | CT/MRI | WES result | Diagnosis before WES |
|---|---|---|---|---|---|---|
1 a | F; 12 | P | Abnormal (tandem gait, Hx GM delay | Normal | Neg | nsSNHL |
2 a | F; 13 | P | Hx GM delay | Normal | Neg | nsSNHL |
10 b | M; 6 | P | Abnormal gait (valgus knee) | NA | MYO7A: c.1915 A > G (p.Asn639Asp) / c.6051 + 2T > C | nsSNHL |
11 b | M; 6 | P | Abnormal gait (valgus knee) | NA | nsSNHL | |
21 | F; 11 | P | Epilepsy (well controlled) | Normal | Neg | nsSNHL |
40 c | F; 16 | P | Blue iris, light/grey colored hair/skin since birth | NA | MITF: c.971G > A (p.Arg324Lys), het | Teitz albinism- deafness |
67 c | F; 43 | P | Blue iris, light/grey colored hair/ skin since birth | NA | Teitz albinism- deafness | |
41 | F; 6 | P | Preauricular skin tags on the right (0.5 cm) and left ear (0.3 cm) | NA | Neg | nsSNHL |
51 | F; 18 | P | Cleft palate (surgical closure at 1.5 y), flat malar | NA | Neg | nsSNHL |
53 | M; 8 | MS | Hx GM delay | NA | Neg | nsSNHL |
56 | M; 20 | MS | Hx GM delay | NA | Neg | nsSNHL |
58 | F; 15 | MS | Hyperpigmented spot on the left leg | NA | GJB2: c.109G > A (p.Val37Ile), hom | nsSNHL |
59 | M; 8 | P | Hx GM delay, blue pigment macule at left buttock, flat foot ± wide base gait | NA | PTEN: c.19G > T (p.Glu7Ter) het de novo | nsSNHL |
61 | M; 7 | MS | Blue iris bilateral, no white forelock | NA | SOX10:c.448 A > G (p.Lys150Glu), het de novo | Waardenburg s. |
62 | F; 19 | P | Pre-auricular skin tag (1 cm) at left ear | Normal | Neg | nsSNHL |
64 | M; 5 | P | Hyperpigmented patch (6 × 4 cm) on the left side of the neck | Normal | Neg | nsSNHL |
65 | F; 34 | P | Goiter (status post thyroidectomy) | NA | SLC26A4: c.1150-1G > A / c.1971 C > A (p.Ser657Arg) | Pendred s. |
80 | F; 4 | Mo | Heterochromia, telecanthus, no white forelock | NA | Neg (PAX3 deletion of Exons 3–8 detected by gene panel), het de novo | Waardenburg s. |
87 | F; 5 | P | Heterochromia on left eye | Normal | PAX3: c.321 + 2T > C (het, de novo) | Waardenburg s. |
88 d | M; 10 | P | Hx GM delay | NA | POU3F4: c.731dup (p.Asn244LysfsTer27), X-linked | nsSNHL |
89 d | M; 17 | S | Hx GM delay | NA | nsSNHL | |
90 | F; 5 | Mo | light skin, epicanthal fold | NA | MPZL2: c.220 C > T (p.Gln74Ter, ) hom | nsSNHL |
103 | F; 6 | MS | Attention deficit & hyperactivity disorder | NA | MITF: c.1209G > A (pThr404Thr) / ? | nsSNHL |
100 | M; 0 | P | Cup-shaped ear, AF 2 × 2, truncal hypotonia, micrognathia; mild intellectual disability | Hypoplasia of the internal acoustic canal and semicircular canal; enlarged vestibules; normal cochlear | GJB2: c.109G > A (p.Val37Ile), hom | nsSNHL |
85 | M; 14 | S | None | Absent/hypoplastic cochlear | Neg | nsSNHL |
79 | F; 1 | P | None | 1 ½ turned cochlear, cyst at the apex | SLC26A4: c.2162 C > T (p.Thr721Met), hom | nsSNHL |
47 | F; 11 | MS | None | Absent/hypoplastic cochlear | Neg | nsSNHL |
28 | F; 5 | P | None | EVA (Right) | Neg | nsSNHL |
15 | F; 6 | MS | None | EVA | SLC26A4: c.349del (p.Leu117SerfsTer9) / c.1229 C > T (p.Thr410Met) | nsSNHL |
