Table 3.
Genotype and phenotype of mutations in dominant steroid-resistant nephrotic syndrome -causing genes detected in Chinese children with steroid-resistant nephrotic syndrome#
| patient | Nucleotide alteration | Deduced protein change | Location (Zygosity, segregation) | Gender | Age at onset | kidney disease | Biopsy (at age) | Extrarenal presentations | Follow up (at age) | Ref |
|---|---|---|---|---|---|---|---|---|---|---|
| WT1 (accession no: NM_024426.4) | ||||||||||
| 3 | c.1339+1G>C(de novo) | Splice | IVS8 (het) | F | 6 d | NS | ND | ND | Died (1 mo) | Novel |
| 25 | c.1339+5G>A(de novo) | Splice | IVS8 (het) | M | 7 mo | SRNS | ND | Male pseudo-hermaphroditis, cryptorchidism, karyotype was 46, XY | ND | 12 |
| 27 | c.1384C>T(de novo) | p.Arg462Trp | EX9 (het) | M | 9 mo | SRNS | ND | Hypospadias,cryptorchidism, right preauricular fistula | ND | 31 |
| 75 | c.1432+1G>A | splice | IVS9 (het) | F | 1yr 1 mo | SRNS | FSGS (1 yr 7 mo) | ND | ND | 32 |
| 35 | c.1432+4C>T | splice | IVS9 (het) | F | 4 yrs 8 mo | SRNS, right kidney dysplasia, left renal cyst | ND | ND | CKD stage 2 (6 yrs 2 mo) | 33 |
| 33 | c.1432+5G>A | splice | IVS9 (het) | F | 2 yrs 4 mo | SRNS | FSGS (4 yrs) | ND | Normal renal function (3 yrs 4 mo) | 34 |
| 78 | c.1432+5G>A | splice | IVS9 (het) | F | 1 yr 11 mo | SRNS | ND | ND | Normal renal function (3 yrs 2 mo) | 34 |
| LMX1B (accession no: NM_001174146.1) | ||||||||||
| 113 | c.737G>A | p.Arg246Gln | EX4 (het, m ) | F | 1yr 1mo | proteinuria | ND | ND | Normal renal function (5 yrs 1 mo) | 35 |
| 116 | c.737G>A | p.Arg246Gln | EX4 (het, f ) | M | 5 yrs 2 mo | proteinuria | MsPGN (5 yrs 3 mo) | ND | Normal renal function (7 yrs 1 mo) | 35 |
| TRPC6 (accession no: NM_004621.5) | ||||||||||
| 15 | c.523C>T(de novo) | p.Arg175Trp | EX2 (het) | M | 4 mo | SRNS | FSGS (1 yr 4 mo) | ND | Normal renal function (1 yr 4 mo) | Novel |
1. Patients listed in this table were Han Chinese ethnicity, and no data of disease recurrence if transplanted were available. Patients 33, 113 and 116 had a positive family history with proteinuria and/or renal failure, and the remainders had a negative family history with proteinuria and/or renal failure.
2. PCR amplification of homo sapiens sex determining region Y (SRY, accession no: NM_003140) was performed in DNA samples for patients 3, 27, 33, 35, 75 and 78, and agarose gel electrophoresis showed positive for patients 27, 33 and 35, whereas negative for patients 3, 75 and 78.
Ref, Reference; EX, Exon; IVS, Intron; het, heterozygous; F, female; M, male; m: mother; f: father; d, day; mo, month; yrs, years; NS: nephrotic syndrome, SRNS: steroid nephrotic syndrome; ND, no data or not done; FSGS, focal segmental glomerulosclerosis; MsPGN, mesangial proliferative glomerulonephritis; CKD, chronic kidney disease.