Table 1. Mutations detected in the Dutch population.
Nr | Gene | Fam nr. | Mutation | Amino-acid change | Mode of inheritance | Age at testing (Sex) | Picture (Figure 2) |
---|---|---|---|---|---|---|---|
1 | SHH | 10304 | c.148_166del19 | p.N50X | Paternal | Fetus (M) | A/B |
2 | 10959 | c.304 T>C | p.C102R | De novo | Fetus (F) | ||
3 | 14317 | c.1145 T>C | p.L382P | Paternal | 46 (F) | ||
4 | ZIC2 | 8774 | c.479delC | p.P159RfsX58 | Germline | 8 (M) | |
5 | 9004 | c.1090 C>T | p.Q364X | De novo | 0 (F) | C | |
6 | 14914 | c.1325delC | p.S442SfsX112 | De novo | Fetus (F) | ||
7 | 7430 | c.1377_1406dup30 | p.A461_470dup | Maternal | 1 (M) | D/E/F | |
8 | 12940 | c.1377_1406dup30 | p.A461_470dup | De novo | Fetus (M) | G | |
9 | 14475 | c.1377_1406dup30 | p.A461_470dup | De novo | fetus (F) | H | |
10 | 14919 | c.1448 G>A | p.G483D | Maternal | Fetus (F) | ||
11 | 11643 | c.1508_1520del13 | p.G503AfsX48 | De novo | 1 (M) | I | |
12 | 9723 | Gene deletion | — | Unknown | 62 (F) | J | |
13 | SIX3 | 12248 | c.235 A>G | p.M79V | De novo | Fetus (F) | |
14 | 9823 | c.404_407dupGCGC | p.V137RfsX18 | De novo | 1 (F) | K | |
15 | 10482 | c.463_465delCAC | p.H155del | Maternal | 0† (F) | ||
16 | 8616 | c.736delA | p.T245fsX5 | De novo | 0† (F) | ||
17 | 8449 | c.769 C>G | p.R257G | Paternal | 16 (M) | ||
18 | 7583 | c.806 G>T | p.R269M | Maternal | 21 (M) | L/M | |
19 | 10536 | c.806 G>C | p.R269T | Paternal | 60 (M) | N/O | |
20 | 5726 | c.806 +1 G>T | Frameshift | De novo/germline | 2† (M) | ||
21 | 12519 | Gene deletion | — | De novo | Fetus (M) | P |
Abbreviations: M, male; F, female. †, deceased