Table 1.
Genetic and clinical characteristics in family 7121
| Member number | Gender | Age at diagnosis (years) | Genotype | Sensorineural deafness | Hypoparathyroidism | Renal hypoplasia | ||||
|---|---|---|---|---|---|---|---|---|---|---|
| c. 826C>T (p.R276*) | Age of onset (years) | Audiometry | Calcium (mmol/L) | Phosphorus (mmol/L) | Intact parathyroid hormone (pg/ml) | Nephrosonography | Creatinine (µmol/L) | |||
| I-2 | Female | 52 | Positive | 20 | Profound | 2.1 | 2.23 | 17.8 | Normal | 74 |
| II-2 | Female | 31 | Positive | 19 | Moderate | 1.92 | 1.33 | 17.1 | Normal | 66 |
| III-1 | Male | 7 | Positive | 5 | Moderate | 1.69 | 1.41 | 16.8 | Left renal agenesis | 54 |
| II-1 | Male | 33 | Negative | – | Normal | – | – | – | – | – |
| Normal range | – | – | – | – | – | 2.02–2.6 | 0.81–1.55 | 15–65 | – | 45–110 |
*Represents the stop of coding.