Research Article
De Novo Mutation of m.3243A>G together with m.16093T>C Associated with Atypical Clinical Features in a Pedigree with MIDD Syndrome
Table 2
Clinical and biochemical characteristics among the pedigrees of F1957.
| | II-1 | III-1 | I-1 | I-2 | II-2 | II-3 | II-4 |
| | m.3243A>G mutation | + | + | - | - | - | - | - | | Sex (M/F) | F | M | F | M | F | F | F | | Age (years) | 60 | 31 | 80 | 83 | 57 | 55 | 51 | | BMI (kg/m2) | 19.5 | 18.5 | 15.7 | 21.7 | 21.0 | 21.0 | 15.6 | | Blood lactic acid (mmol/l) | 1.97 | 4.17 | 1.58 | NA | 0.82 | 0.92 | 1.07 | | Diabetes | | | | | | | | | Onset age of diabetes (years) | 40 | 26 | - | - | - | - | - | | HbA1C (%) | 6.4 | 7.3 | 5.4 | 5.7 | 5.5 | 5.5 | 5.7 | | GA (%) | 14.6 | 21.2 | 15.3 | 13.4 | 12.5 | 13.2 | 15.1 | | Fasting plasma glucose (mmol/l) | 6.78 | 10.43 | 5.20 | 5.92 | 5.36 | 4.74 | 5.56 | | 2 h postprandial plasma glucose (mmol/l) | 10.72 | 15.66 | 6.99 | NA | 6.10 | 3.92 | 5.01 | | Fasting C-peptide (ng/ml) | 1.01 | 2.22 | 1.02 | 1.75 | 2.01 | 1.66 | 1.62 | | 2 h postprandial C-peptide (ng/mL) | 2.27 | 3.22 | 9.39 | NA | 8.85 | 5.00 | 10.41 | | Treatment | Insulin (40 U/day) | Insulin (30 U/day) | - | - | - | - | - | | SNHL | | | | | | | | | Symptoms of deafness | - | - | - | - | - | - | - | | Pure-tone averages | | | | | | | | BEHL0.5-4.0kHz | 30 (mild +) | 31.25 (mild +) | 22.50 (-) | NA | 13.75 (-) | 10.00 (-) | NA | | 0.5-2.0 kHz | 28.33 | 27.50 | 23.33 | NA | 13.33 | 15.00 | NA | | 4.0-8.0 kHz | 57.50 | 52.50 | 30.00 | NA | 33.75 | 15.00 | NA | | DPOAE SNR averages in the right ear | | | | | | | 1.0-3.0 kHz | 3.18 | 6.58 | NA | NA | 12.9 | 9.15 | NA | | 4.0-8.0 kHz | −1.63 | −1.23 | NA | NA | 5.63 | 6.27 | NA | | Brain MRI | | | | | | | | | High-signal lesions on T2-weighted images | Bilateral frontal lobe, periventricular, brainstem | Bilateral frontal lobe, left parietal lesion | NA | NA | NA | - | NA | | Brain atrophy | + | - | NA | NA | NA | - | NA | | Atypical clinical features | | Nausea and vomiting | - | + | - | - | - | - | - |
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BMI: body mass index; HbA1c: glycated hemoglobin; GA: glycated albumin; GAD-Ab: glutamic acid decarboxylase; IA2-Ab: islet antigen 2; ACR: urinary albumin-to-creatinine ratio; SNHL: sensorineural hearing loss; BEHL: better ear hearing level; DPOAE: distortion product otoacoustic emission; -: negative; NA: not available.
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