Case | Sex | Age | Clinical manifestation | Accessory examination | fam. hist. | Exon | Nucleotide change | Amino acid change | Hom/Het | Type of mutation | ACMG | First description |
---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | F | 21 | Diabetes at the age of 7, and Hyperuria occurred at the age of 11 | double hydronephrosis, bilateral ureteral dilatation, optic nerve papillary atrophy in both eyes. | None | 8 | c.1314_1317delCTTT | p.F438Lfs*3 | Hom | Frameshift | LP(PVS1_Strong + PM2 + PP4) | Novel |
2 | M | 14 | Diabetes at the age of 10, slow growth at the age of 11, diminution of vision and incontinentia urinae.at 12 | hydronephrosis, bilateral ureal expansion, sensorineural deafness | Parents were consanguineous in marriage. Grandpa, grandma, uncle, and uncle have diabetes | 5 | c.C529T | p.R177C | Hom | Missense | LP(PM3_Supporting + PM1 + PM2 + PM5 + PP3) | [12] |
3 | M | 17 | Diabetes at the age of 3, slow growth at the age of 9, diminution of vision at 14 | optic nerve atrophy, mild hydronephrosis in the left kidney, and expansion of the upper ureteric segment | Parents were consanguineous in marriage, and grandpa, grandma and aunt have diabetes. | 8 | c.C529A | p.R177S | Het | Missense | P(PM1 + PM2 + PM5 + PP1_Strong + PP3 + PP4) | Novel |
8 | c.G2105A | p.G702D | Het | Missense | P(PM3_Moderate + PM1 + PM2 + PM5 + PP1_Strong + PP3 + PP4) | |||||||
4 | M | 17 | Diabetes at the age of 5 | optic atrophy, mild hydronephrosis in the left kidney, and expansion of the upper ureteric segment | None | 8 | c.C1885T | p.R629W | Hom | Missense | LP(PS4 + PM2 + PM3) | Novel |
5 | M | 30 | Diminution of vision at 14, diabetes at the age of 16 | optic atrophy | Parents denied consanguineous marriage. Uncle have diabetes, and two sisters are diagnosed as WS. | 8 | c.1859_1860del | p.V620Gfs*91 | Het | Frameshift | P(PVS1_Strong + PM2 + PM3 + PP1_Strong + PP4) | Novel |
8 | c.G2020A | p.G674R | Het | Missense | P(PM3_Strong + PM1 + PM2 + PM5 + PP1_Strong + PP3 + PP4) | |||||||
6 | M | 12 | Diabetes at the age of 5 | Optic nerve atrophy, and refractive error (both eyes). | Patients were consanguineous in marriage with diabetes, and his brother was also clearly diagnosed as WS. | 8 | c.C529A | p.R177S | Het | Missense | LP(PM1 + PM2 + PM5 + PP1_Supporting + PP3 + PP4) | Novel |
8 | c.G2105A | p.G702D | Het | Missense | LP(PM3_Moderate + PM1 + PM2 + PM5 + PP1_Supporting + PP3 + PP4) | |||||||
7 | M | 19 | Diabetes at the age of 5 | No menstruation | Parents were consanguineous in marriage, and the younger brother was also clearly diagnosed as WS | 8 | c.G1393C | p.A465P | Hom | Missense | VUS(PM2 + PM3_Supporting + PP4) | Novel |