Table 2 Clinical features of children with hearing impairment and with rare variants in MT-RNR1 and MT-RNR2
Variant | Sex | Degree of SNHI | Other symptoms | Age at diagnosis (years) | Family history | Haplogroup | Haplogroup in HmtDB or Mitomap |
|---|---|---|---|---|---|---|---|
740G > A | Girl | Severe | Non-syndromic | 5 | Negative | Z1a | Z1a |
740G > A | Boy | Moderate | Intellectual disability, short stature, renal dysplasia | 10 | Negative | Z1a | Z1a |
896A > G | Girl | Mild | Intellectual disability cleft palate, congenital hypothyreosis | 8 | Negative | U5b | U5b |
958C > T | U5b,M5a,M5b,M7d | ||||||
2445 T > C | U5a,U5b,D1,H1,L2 | ||||||
990 T > C | Girl | Profound* | Non-syndromic | 5 | Negative | V2 | L3,D4,V2,H1,H3,H4 |
1341C > T | Girl | Mild | Non-syndromic | 11 | Negative | U5b | U5b |
2098G > A | Girl | Severe | Intellectual disability, hydrocephalus, spastic triplegia | 3 | Negative | H1 | H1,K2,J2 |
2405c-cc | Boy | Mild | Non-syndromic | 7 | Negative | U4d | U4d |
2405c-cc | Girl | Moderate | Non-syndromic | 5 | Positive dominant | U4d | U4d |
2445 T > C | Boy | Severe | Non-syndromic | 3 | Negative | U5a | U5a,U5b,D1,H1,L2 |