TableĀ 3

Mosaic NIPBL mutations detected in present CdLS cohort

LymphocytesBuccal cellsComment
1Wild typec.358+3G>T1, 2
2Wild typec.4543G>T, p.Glu1515*
3Wild typec.1345C>T, p.Gln449*
4Wild typec.2389C>T, p.Arg797*1
5Wild typec.7263+5G>A2
6Wild typec.742_745dup, p.His 249Profs*9
7Wild typec.7168G>A, p.Ala2390Thr1
8Wild typec.790del, p.Met264*
9Wild typec.3327del, p.Asp1110Metfs*63
10Wild typec.459-9G>A2
11Wild typeWild type
12Wild typeWild type
13Wild typeWild type
14c.2479_2480del, p.Arg827Glyfs*2c.2479_2480del, p.Arg827Glyfs*21
15c.2771del, p.Asn924Thrfs*5c.2771del, p.Asn924Thrfs*5
16c.6156G>C, p.Glu2052Aspc.6156G>C, p.Glu2052Asp
17c.2324A>G, p.Lys775Argc.2324A>G, p.Lys775Arg
18c.7062+1G>Ac.7062+1G>A2
19c.6892C>T, p.Arg2298Cysc.6892C>T, p.Arg2298Cys1
  • 1, Detected in other CdLS patients as well (LOVD database); 2, In silico splicing predictions show disrupted splice sites (Alamut prediction).

  • CdLS, Cornelia de Lange syndrome.