Table 3 Results of molecular studies in 39 Dutch patients with CdLS .
| Type of mutation | ||||||||
|---|---|---|---|---|---|---|---|---|
| Missense | Splice site | Nonsense | Frameshift | Polymorphisms | ||||
| Exon 3 | Intron 6 | Exon10 | Exon 10 | Intron 5 | ||||
| c.86 C→A | c.611 −6T→C | c.2341A→T | c.1513‐1514insA | c.458 −49G→C | ||||
| p.Pro29Gln | c.610 +5G→C | p.Lys781X | c.1784delA | Exon 6 | ||||
| Exon 10 c.2324A→Gp.Lys775Arg | Exon 28 c.5427G→TIntron 31 | p.Arg834XExon 45c.7849C→T | c.2358 duplication 22 nucleotidesc.2479_2480delAG* | c.614G→A Exon 10c.2324A→G | ||||
| Exon 35 | c.5808 +5G→C | p.Gln2617X | c.2587_2588insA | Intron 11 | ||||
| c.6156 G→C | c.2771delA | c.3304 −92insT | ||||||
| p.Glu2052Asp | c.3047_3048delTT | c.4422 −23C→T | ||||||
| Exon 40 | c.3060‐3063delAGAG | Intron 20 | ||||||
| c.6893G→A | c.3367delA | Intron 27 | ||||||
| p.Arg2298Ser | Exon 47 | c.5329 −15A→G | ||||||
| Exon 44 | c.8137‐8138insA | |||||||
| c.7649A→T | ||||||||
| p.Lys2550Ile | ||||||||
*Previously reported by Gillis et al19