Table 2.
UMOD mutations in FJHN families and patients
| Family/patient | Nucleotidea | Exon | Confirmation | Amino acid change | Uromodulin domain affected |
|---|---|---|---|---|---|
| 6 | c.96C>G | 3 | RE | Cys32Trp* (C32W) | EGF1 |
| 11 | c.553C>G | 3 | ARMS-PCR | Arg185Gly (R185G) | Cysteine-rich region |
| 5 | c.586G>A | 3 | ARMS-PCR | Asp196Asn* (D196N) | Cysteine-rich region |
| 15 | c.651C>G | 3 | RE | Cys217Trp* (C217W) | D8C |
| 9 | c.667T>C | 3 | RE | Cys223Arg* (C223R) | D8C |
| 20 | c.1462G>C | 7 | RS | Gly488Arg* (G488R) | ZP |
RE, restriction endonuclease; ARMS-PCR, amplification refractory mutation system-PCR; RS, repeat DNA sequence analysis using independent PCR products; novel mutations are marked by asterisks; EGF, epidermal growth factor-like; D8C, domain of eight cysteines; ZP, zona pellucida.
aNucleotide numbers refer to UMOD cDNA. 1 = A of ATG.