Table 1.
Mutations in UMOD gene were found in 109 patients belonging to 45 families
| Family | No. of Cases | Exon | Nucleotide Change | Effect on Coding Sequence | Reference | Type of Mutation |
|---|---|---|---|---|---|---|
| V2 | 1 | 4 | c0.95G>A | p.C32Y | Vylet'al et al. (9) | 1 |
| F2 | 3 | 4 | c0.100G>A | p.E34K | Novel | 2 |
| D2 | 2 | 4 | c0.176A>C | p.D59A | Dahan et al. (4) | 2 |
| S1 | 1 | 4 | c0.205T>C | p.C69R | Novel | 1 |
| D1 | 3 | 4 | c0.334T>C | p.C112R | Dahan et al. (4) | 1 |
| B1 | 3 | 4 | c0.376T>C | p.C126R | Dahan et al. (4), Vylet'al et al. (9), Turner et al. (8) | 1 |
| F4 | 1 | 4 | c0.403T>A | p.C135Y | Kudo et al. (6) | 1 |
| L3 | 6 | 4 | c0.442T>C | p.C148R | Novel | 1 |
| F3 | 2 | 4 | c0.449G>C | p.C150S | Rampoldi et al. (7) | 1 |
| G6 | 1 | 4 | c0.449G>C | p.C150S | Rampoldi et al. (7) | 1 |
| C3 | 3 | 4 | c0.459C>T | (r.spl?)a | Novel | 4 |
| L5 | 3 | 4 | c0.509G>A | p.C170Y | Dahan et al. (4) | 1 |
| W1 | 3 | 4 | c0.509G>A | p.C170Y | Dahan et al. (4) | 1 |
| H1 | 1 | 4 | c0.514G>C | p.D172H | Novel | 2 |
| B2 | 3 | 4 | c0.552G>C | p.W184C | Novel | 1 |
| P1 | 1 | 4 | c0.553C>T | p.R185C | Novel | 1 |
| L1 | 5 | 4 | c0.554G>A | p.R185H | Novel | 3 |
| J1 | 8 | 4 | c0.553C>A | p.R185Sa | Dahan et al. (4) | 1 |
| G3 | 3 | 4 | c0.563_661del | p.E188_L221del | Dahan et al. (4) | 4 |
| G1 | 2 | 4 | c0.585_586CG>TA | p.D196N | Williams et al. (21) | 2 |
| R2 | 3 | 4 | c0.586G>T | p.D196Y | Lhotta et al. (37) | 2 |
| P2 | 1 | 4 | c0.610G>C | p.R204P | Novel | 2 |
| A1 | 2 | 4 | c0.610C>G | p.R204G | Dahan et al. (4) | 2 |
| D4 | 2 | 4 | c0.628G>A | p.G210S | Novel | 2 |
| P3 | 1 | 4 | c0.628G>A | p.G210S | Novel | 2 |
| B3 | 2 | 4 | c0.649T>G | p.C217G | Novel | 1 |
| P4 | 9 | 4 | c0.665G>C | p.R222P | Dahan et al. (4) | 2 |
| G4 | 1 | 4 | c0.674C>T | p.T225M | Dahan et al. (4) | 2 |
| L2 | 8 | 4 | c0.674C>T | p.T225M | Dahan et al. (4) | 2 |
| L6 | 1 | 4 | c0.674C>T | p.T225M | Dahan et al. (4) | 2 |
| L4 | 2 | 4 | c0.707C>T | p.P236L | Kudo et al. (6) | 3 |
| B4 | 1 | 4 | c0.707C>T | p.P236L | Kudo et al. (6) | 3 |
| D3 | 1 | 4 | c0.710C>G | p.S237C | Novel | 1 |
| R1 | 2 | 4 | c0.749A>T | p.H250L | Novel | 2 |
| V1 | 2 | 4 | c0.817G>A | p.V273L | Novel | 3 |
| G2 | 2 | 4 | c0.844T>C | p.C282R | Dahan et al. (4) | 1 |
| P5 | 2 | 4 | c0.855C>A | p.A285E | Novel | 2 |
| S2 | 1 | 5 | c0.891T>G | p.C297W | Schaffer et al. (38) | 1 |
| G5 | 1 | 5 | c0.893G>A | p.C297Y | Novel | 1 |
| F1 | 3 | 5 | c0.944G>A | p.C315Y | Novel | 1 |
| L7 | 1 | 5 | c0.944G>A | p.C315Y | Novel | 1 |
| L8 | 2 | 5 | c0.944G>A | p.C315Y | Novel | 1 |
| C2 | 2 | 8 | c0.1382C>A | p.A461E | Novel | 5 |
| M1 | 1 | 8 | c0.1406C>T | p.T469M | Novel | 5 |
| C1 | 1 | 8 | c0.1462G>A | p.G488R | Williams et al. (21) | 5 |
The exon-mutated nucleotide changes in genomic DNA and their consequences on protein sequence for the mutated allele are provided for each family. Thirteen families were previously reported by Dahan et al. (4). The references are indicated for the 23 mutations previously described by other groups. Types of mutations were classified as follows: 1, cysteine substitution in exon 4 or 5 (n = 17); 2, polar residue substitution in exon 4 or 5 (n = 12); 3, other residue substitution in exon 4 or 5 (n = 3); 4, in-frame deletion (n = 2); and 5, mutation in exon 8 (n = 3).
Using the HSF website (http://www.umd.be/HSF/), we observed the creation of a new donor site at position c0.458 (new splice site: CGGgttcct) responsible, if the cryptic site is used, for a strong variation of the UMOD exon 4 length with the loss of 408 nucleotides. The silent change c0.459C>T may then cause aberrant splicing with the appearance of an in-frame UMOD transcript lacking 135 amino acids (r.spl?).