Table 3

CDH1 and CTNND1 mutations found in patients with the blepharocheilodontic syndrome (BCDS)

GeneAlterationLocationTypeBCDS casesReference
CDH1 c.760G>T (p.Asp254Tyr)Exon 6Missense1 85
CDH1 c.760G>A (p.Asp254Asn)Exon 6Missense7 86
CDH1 c.768T>G (p.Asn256Lys)Exon 6Missense2 86
CDH1 c.770A>C (p.Asp257Val)Exon 6Missense1 85
CDH1 c.862G>C (p.Asp288His)Exon 7Missense1 86
CDH1 c.1118C>G (p.Pro373Arg)Exon 8Missense3 86
CDH1 c.1320G>TExon 9Splice site?2 85
CDH1 c.1320+1G>CIntron 9Splice site2 85
CDH1 c.1320+1G>AIntron 9Splice site2 86
CDH1 c.1320+1G>TIntron 9Splice site1 86
CDH1 c.1320+5G>AIntron 9Splice site1 86
CDH1 c.1361_1363del (p.Val454del)Exon 10Deletion1 85
CDH1 c.2028C>A (p.Asp676Glu)Exon 13Missense1 84
CTNND1 c.606_627del (p.Pro203Leufs*25)Exon 6Frameshift1 85
CTNND1 c.1093C>T (p.Gln365*)Exon 7Nonsense1 85
CTNND1 c.1372C>T (p.Arg458*)Exon 7Nonsense5 86
CTNND1 c.1595G>A (p.Gly532Asp)Exon 8Missense1 86
CTNND1 c.2098C>T (p.Arg700*)Exon 14Nonsense2 85
CTNND1 c.2489G>A (p.Trp830*)Exon 16Nonsense1 86
  • For each genetic alteration, the location, type of mutation, number of BCDS cases, as well as the corresponding reference are displayed.