Table 3

 Results of molecular studies in 39 Dutch patients with CdLS

Type of mutation
MissenseSplice siteNonsenseFrameshiftPolymorphisms
*Previously reported by Gillis et al19
Exon 3Intron 6Exon10Exon 10Intron 5
c.86 C→Ac.611 −6T→Cc.2341A→Tc.1513-1514insAc.458 −49G→C
p.Pro29Glnc.610 +5G→Cp.Lys781Xc.1784delAExon 6
Exon 10 c.2324A→G p.Lys775ArgExon 28 c.5427G→T Intron 31p.Arg834X Exon 45 c.7849C→Tc.2358 duplication 22 nucleotides c.2479_2480delAG*c.614G→A Exon 10 c.2324A→G
Exon 35c.5808 +5G→Cp.Gln2617Xc.2587_2588insAIntron 11
c.6156 G→Cc.2771delAc.3304 −92insT
p.Glu2052Aspc.3047_3048delTTc.4422 −23C→T
Exon 40c.3060-3063delAGAGIntron 20
c.6893G→Ac.3367delAIntron 27
p.Arg2298SerExon 47c.5329 −15A→G
Exon 44c.8137-8138insA
c.7649A→T
p.Lys2550Ile