Table 2 Summary of clinical and molecular findings in the mentioned families
Family Number | Mutation Position | Nucleotide change | Amino acid Change | Clinical findings | |
|---|---|---|---|---|---|
I | III:8 | Exon 8 | c.1232_1233delCT | S411 fs*541 | Diabetes mellitus, bilateral optic atrophy, decreased vision, diabetes insipidus, hydronephrosis, atonic bladder, bilateral high-frequency sensorineural hearing loss |
III:9 | Diabetes mellitus, decreased vision, bilateral optic atrophy, hydronephrosis, severe neurological problems | ||||
IV:1 | Hydroureteronephrosis, diabetes mellitus, vesicoureteral reflux, neuropathic bladder | ||||
II | III:7 | Exon 8 | c.2243-2244insC | T749Hfs*10 | Diabetes mellitus, progressive visual loss, optic atrophy, bilateral hydronephrosis, neurogenic bladder |
III:3 and III:5 | Diabetes mellitus, gradual loss of visual acuity, severe chronic kidney disease | ||||