Research Article
Effects of CoQ10 Replacement Therapy on the Audiological Characteristics of Pediatric Patients with COQ6 Variants
Table 1
Phenotypes and genotypes of 12 patients with biallelic COQ6 variants.
| | Patients/gender | 1/M | 2/F | 3/F | 4/F | 5/F | 6/M | 7/M | 8-1/M | 8-2/F | 9/M | 10/M | 11/F |
| | Genotypes | | | | | | | | | | | | | | COQ6 | K64del/P261L | K64del/Q229P | K64del/P261L | K64del/P261L | K64del/P261L | K64del/P261L | Q229P/P261L | K64del/P261L | K64del/P261L | Q229P/P261L | R162/P261L | P261L, homozygote | | COQ8B c.521A>G | A/G | A/G | A/G | A/A | A/A | A/G | A/G | A/A | A/G | G/G | Not done | Not done | | Kidney phenotypes | | | | | | | | | | | | | | Age of onset (y) | 3.9 | 2.0 | 3.9 | 2.7 | 1.2 | 3.1 | 0.8 | 1.1 | 3.0 | 1.1 | 9.1 | 6.9 | | Mode of onset | SRNS | SRNS | SRNS | SRNS | SRNS | SRNS | SRNS | SRNS | SRNS | SRNS | SRNS | PU | | Kidney biopsy | FSGS, coll | FSGS | FSGS, coll | FSGS, coll | FSGS | FSGS | FSGS | FSGS, cell | Not done | FSGS | FSGS | FSGS | | Kidney function at start of CoQ10 Tx | ESKD | ESKD | ESKD | ESKD | ESKD | ESKD | AKI St 2 | CKD G3 | Normal | CKD G1 | AKI St 3 on CKD G2 | CKD G1 | | Kidney outcome at the last follow-up | ESKD | ESKD | ESKD | ESKD | ESKD | ESKD | ESKD | ESKD | CKD G1 | CKD G1 | CKD G3 | CKD G2 | | Age at ESKD (y) | 6.2 | 3.1 | 4.0 | 4.6 | 1.4 | 3.5 | 1.5 | 1.3 | — | — | — | — | | Age at KT (y) | 11.5 | 6.5 | 6.3 | 7.2 | 6.4 | 4.9 | 2.7 | 2.6 | — | — | — | — | | Periods from onset to CoQ10 Tx (y) | 9.8 | 2.8 | 7.1 | 5.6 | 13.7 | 12.9 | 0.1 | 0.2 | — | 3.9 | 0.9 | 6.6 | | Audiological phenotypes | | | | | | | | | | | | | | Age at SNHL (y) | 6.0 | 2.5 | 4.4 | 6.3 | 1.5 | 5.9 | 1.2 | 1.3 | 5.0 | 5.2 | 3.6 | — | | Age at initial audiometry (y) | 12.4 | 6.0 | 4.3 | 2.9 | 1.6 | 5.9 | 0.9 | 1.2 | 5.0 | 5.4 | 4.2 | 13.9 | | Initial hearing level (R/L) (dB) | 120/120 | 84/80 | 55/60 | 35/35 | NR/NR | 60/60 | 25/25 | 85/60 | 59/60 | 62/62 | 55/50 | 7/4 | | Initial hearing level (R/L) (degree) | Profound | Severe | Moderate/mod-severe | Mild | Profound | Mod-severe | Mild | Severe/mod-severe | Mod-severe | Mod-severe | Moderate | Normal | | Threshold difference between two ears (dB) | 0 | 4 | 5 | 0 | 0 | 0 | 0 | 25 | 1 | 0 | 5 | 3 | | Symmetry | + | + | + | + | + | + | + | − | + | + | + | + | | Rehabilitation status at initial audiometry | (R) CI, (L) HA | (B) HA | None | None | (B) HA | None | None | None | None | None | None | None | | Other phenotypes | Mm weak, nystagmus | Exotropia, nystagmus, bilat OA | None | None | Bilat OA | DCMP, Mm weak | None | Atlantoaxial dislocation | None | None | None | None |
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