Table 4 Review of the characteristics of PHAII patients with KLHL3 gene mutations
Author | Mutation | Exon | het/hom | Pattern of inheritance | Family history or not | Age at diagnosis (years) | Sex | Serum potassium |
|---|---|---|---|---|---|---|---|---|
This study | T110A | 4 | hom | recessive | sporadic | 56 | M | 5.44 |
Yang [16] | S433N | 11 | het | dominant | sporadic | 23 | F | 6.3 |
Doan [17] | A474V | 11 | het | dominant | sporadic | 0.16 | F | 6.4 |
Kliuk-Ben Bassat [13] | S553L | 13 | hom | recessive | pedigree | 1 | M | 7.1 |
34 | F | 6.2 | ||||||
Q309R | 8 | het | dominant | pedigree | 63 | M | 5.6 | |
62 | F | 4.8 | ||||||
57 | M | 5.1 | ||||||
54 | M | 6.4 | ||||||
47 | F | 5.1 | ||||||
47 | F | 5.1 | ||||||
44 | M | NA | ||||||
18 | M | 5.2 | ||||||
15 | F | 5.8 | ||||||
12 | F | 5.3 | ||||||
Mayan [12] | Q309R | 8 | het | dominant | pedigree | 69 | F | 5.4 |
48 | F | 5.4 | ||||||
11 | M | 6.4 | ||||||
11 | M | 7.2 | ||||||
10 | F | 5.3 | ||||||
R528H | 13 | het | dominant | pedigree | 38 | F | 5.6 | |
15 | F | 6 | ||||||
13 | F | 6.2 | ||||||
8 | F | 5.8 | ||||||
2 | M | 7 | ||||||
Park [11] | C164F | 4 | het | dominant | sporadic | 0.8 | F | 6.3 |
S433N | 11 | het | dominant | pedigree | 1.7 | F | 6.9 | |
S433N | 11 | het | dominant | pedigree | 23 | F | 6.4 | |
Mitani [14] | L387P | 9 | het | dominant | sporadic | 3 | M | 6.6 |
Kelly [15] | H498Y | 13 | het | dominant | pedigree | 18 | M | 7.3 |