Family | Number of cases | Zygosity | Mutation | Reference |
---|---|---|---|---|
1 | 2 | Homozygous | c.747C > G (p.Phe249Leu) | [14] |
2 | 2 | Homozygous | c.34G > C (p.Gly12Arg) | [12] |
3 | 1 | Homozygous | c.34G > C (p.Gly12Arg) | [15] |
4 | 1 | Homozygous | c.*241 T > C | [13] |
5 | 1 | Homozygous | c.*241 T > C | |
6 | 1 | Homozygous | c.*241 T > C | |
7 | 1 | Heterozygous | c.*241 T > C; c.2107G > C (p.Glu703Gln) | |
8 | 1 | Heterozygous | c. 808A > G (p.Met270Val); c.1297G > T* | [16] |
9 | 1 | Heterozygous | c.925delG (p.Asp309Thrfs*54); c.1492G > A (p.Gly498Arg) | [11] |
10 | 1 | Heterozygous | c.34G > C (p.Gly12Arg); c.1839delC (p.Asn614Thrfs*188) | |
11 | 2 | Heterozygous | c.34G > C (p.Gly12Arg); c.2188dupC (p.Gln730Profs*294) | |
12 | 1 | Heterozygous | c.796_797delTT (p.Phe266Argfs*25); c.2108-2A > G | This report |