Table 3. Clinical characteristics of HL probands with rare variants.
| Proband ID | HL | Nucleotide | Zygosity | Inh | Phenotype | Final diagnosis |
|---|---|---|---|---|---|---|
| Nonsyndromic HL | ||||||
| P354 | fam | MIR96:NR_029614.1:n.43G>A | Het | AD | Moderately severe SNHL | Nonsyndromic SNHL |
| P2091 | fam | MITF:NM_198159.2:c.943C>T | Het | AD | Severe-profound SNHL | Waardenburg syndrome |
| P074 | fam | TECTA:NM_005422.2:c.6061C>T | Het | AD | Moderately severe SNHL; mild ID | Nonsyndromic SNHL, DFNA12 |
| P554 | fam | TMC1:NM_138691.2:c.1141T>A | Het | AD | Mild to moderate SNHL between 0.1 and 1kHz, then steeply sloping to severe to profound HL between 1 and 4KHz. | Nonsyndromic SNHL |
| P476 | spor | MYH14: NM_001145809.1:c.5105T>C; WFS1: NM_001145853.1:c.2437G>A | Het; Het | AD | Moderately severe SNHL | Nonsyndromic SNHL |
| P162 | spor | OTOF:NM_194248.2:c.4483C>T; OTOF:NM_194248.2:c.2677-2A>G | Het; Het | AR | Profound SNHL | Nonsyndromic SNHL, DFNB9 |
| P564 | spor | SLC26A4:NM_000441.1:c.1003T>C; SLC26A4:NM_000441.1:c.1790T>C | Het; Het | AR | Severe SNHL; Mondini malformation | Nonsyndromic SNHL, DFNB4 |
| P976 | spor | SLC26A4:NM_000441.1:c.299T>C; SLC26A4:NM_000441.1:c.1693T>G; SLC26A4:NM_000441.1:c.1730T>C | Het; Het; Het | AR | Sudden deterioration of hearing at the age of 18 months followed by phases of fluctuating HL leading to profound SNHL | Nonsyndromic SNHL, DFNB4 |
| P694 | fam | TMPRSS3:NM_024022.2:c.208delC | Hom | AR | Profound SNHL | Nonsyndromic SNHL |
| P584 | spor | USH2A:NM_206933.2:c.11864G>A | Hom | AR | Moderate SNHL | Usher syndrome type 2A |
| Syndromic HL | ||||||
| P794 | spor | CHD7:NM_017780.3:c.6892C>T | Het | AD | Progressive mixed, bilateral HL; SNHL component profound; middle and inner ear anomalies; myopia, bilateral retinal coloboma, hypothyroidism; coeliac disease; above average IQ | CHARGE syndrome |
| P152 | spor | HDAC8:NM_018486.2:c.522C>A | Het | AD | Moderate SNHL; global developmental delay, seizures, microcephaly, dysplastic facial features, fingers and toes syndactyly | Cornelia de Lange syndrome |
| P045 | spor | MITF:NM_198159.2:c.943C>T | Het | AD | Severe SNHL; unilateral heterochromia, dorsiflexion of 2nd toes | Waardenburg syndrome |
| P584 | spor | NEFL:NM_006158.3:c.293A>G | Het | AD | Mild SNHL between 0.125 kHz and 4 KHz, moderate HL between 4 KHz and 8 KHz; delayed motoric milestones, difficulties in walking, progressive distal weakness of the lower and upper limbs, cerebellar dysfunction, peripheral motor and sensory neuropathy | Charcot-Marie Tooth Disease 2E/1F |
| P144 | spor | RYR1:NM_000540.2:c.7111G>A | Het | AD | Mild SNHL between 6 kHZ and 8 kHz; congenital arthrogryposis, delayed motoric milestones, severe scoliosis | Central Core disease |
| P552 | spor | SF3B4:NM_005850.4:c.827delC | Het | AD | Moderately severe conductive hearing loss; malar hypoplasia, micrognathia, thumb hypoplasia, radioulnar synostosis | NAGER syndrome |
| P555 | fam | GJB2:NM_004004.5:c.35delG | Hom | AR | Moderately severe SNHL; both parents are hearing impaired, father also has RP along with some of his other close relatives | Nonsyndromic SNHL |
| P314 | spor | GJB2:NM_004004.5:c.35delG; GJB2:NM_004004.5:c.269T>C | Het; Het | AR | Moderately severe SNHL; microphthalmia, solitary kidney, omphalocele, dysplastic facial features; normal growth and development | Nonsyndromic SNHL |
| P852 | fam | USH2A:NM_206933.2:c.11864G>A | Hom | AR | Moderate SNHL; retinitis pigmentosa | Usher syndrome 2A |
AD, autosomal dominant. AR, autosomal recessive. Fam, familial. Het, heterozygous. HL, hearing loss. Hom, homozygous. ID, intellectual disability. Inh, inheritance. SNHL, sensorineural hearing loss. Spor, sporadic.