Table 1

Overview of studies describing results of mutation analysis in four or more individuals with clinically diagnosed CdLS*

AuthorNumber of patientsMethodsMutations
NIPBL N (%)SMC1A N (%)SMC3 N (%)RAD21 N (%)HDAC8 N (%)Mosaicism N (%)Any mutation N (%)No detectable mutations N (%)
Gillis et al (2004),120Sequencing/FISH56 (47%)56 (47%)64 (53%)
Deardorff et al (2007),115 NIPBL-Sequencing10 (9%)1 (1%)‡11 (10%)104 (90%)
Chatfield et al (2012)319†130 (41%)15 (4.7%)1 (0.3%)146 (46%)173 (54%)
Borck et al (2004, 2006, 2007)30Sequencing/aCGH/sequencing 5′ÚTR13 (43%)2 (7%)015 (50%)15 (50%)
Miyake et al (2005)15Sequencing/FISH4 (27%)4 (27%)11 (73%)
Yan et al (2006),28Sequencing13 (46%)13 (46%)15 (54%)
Ratajska et al (2010)11 (NIPBL-/SMC1-MLPA, aCGH1 (9%)§01 (9%)10 (91%)
Selicorni et al (2007), Gervasini et al (2008), Russo et al (2012)200Sequencing/FISH aCGH/MLPA75 (38%)0075 (38%)125 (62%)
Schoumans et al (2007)a: 11a: Sequencinga: 7 (64%)0a: 7 (64%)a: 4 (36%)
b: 4b: MPLA/5′UTR/aCGHb: 1 (25%)¶b: 1 (25%)b: 3 (75%)
Pie et al (2010)30Sequencing11 (37%)3 (10%)014 (47%)16 (53%)
Zhong et al (2012)4Sequencing2 (50%)002 (50%)2 (50%)
Bhuiyan et al (2006, 2007, present study)44Sequencing/MLPA/sequencing buccal25 (57%)**2 (5%)00010 (23%)††37 (84%)7 (16%)
  • *If a gene was not sequenced in the study the square is left blank.

  • †Individuals with congenital heart disease.

  • ‡1/96 studied.

  • §Deletions detected by MLPA.

  • ¶9p duplication.

  • **One with deletion detected by MLPA.

  • ††Until now in 4/17 without detectable mutation in lymphocytes no buccal swabs could be obtained.

  • aCGH, array based comparative genomic hybridisation; CdLS, Cornelia de Lange syndrome; FISH, fluorescence in situ hybridisation; MLPA, multiplex ligation dependent probe amplification.