Table 2

CDH1 mutations found in patients affected by cleft lip/palate (CL/P)

AlterationLocationTypeCL/P casesCancer historyReferences
c.88C>A
(p.Pro30Thr)
Exon 2Missense2 aHDGC*; b2LBC* 22, a 98*, b 59*
c.337A>G (p.Lys113Glu)Exon 3Missense1 22
c.387+5G>AIntron 3Splice site1 24
c.531+2T>AIntron 4Splice site43DGC; 1GC 20
c.531+3A>GIntron 4Splice site1 22
c.532–18C>TIntron 4Splice site31DGC*; 1 mixed GC* 22 28*
c.752C>T (p.Thr251Met)Exon 6Missense1 81
c.760G>A (p.Asp254Asn)Exon 6Missense8+1* 24, 81*
c.768T>A (p.Asn256Lys)Exon 6Missense6 81
c.832+1G>TIntron 6Splice site11DGC 99
c.1023T>G (p.Tyr341*)Exon 8Nonsense5HDGC* 24, 100*
c.1108G>T (p.Asp370Tyr)Exon 8Missense1 22
c.1135_1137+5delins5Exon 8Splice site14GC 17
c.1137G>AExon 8Splice site12DGC; 1GC 20
c.1404delC (p.Thr468Thrfs*13)Exon 10Frameshift39GC; 1BC 17
c.1489G>A (p.Glu497Lys)Exon 10Missense1 81
c.1766A>T (p.Asn589Ile)Exon 12Missense1 81
c.2143G>T (p.Gly715*)Exon13Nonsense3 79
c.2351G>A (p.Arg784His)Exon 15Missense3 24
c.2413G>A (p.Asp805Asn)Exon 15Missense11DGC* 2216*
c.2426_2427del (p.Asn809Ilefs*3)Exon 15Frameshift4 81
c.2439+10C>TIntron 15Splice site1 22
c.2440–6_2440-4delIntron 15Splice site1 22
  • The genetic alteration, mutation type, number of CL/P cases and reports of associated cancers are presented.

  • *Described elsewhere.

  • HDGC, hereditary diffuse gastric cancer; LBC, lobular breast cancer; DGC, diffuse gastric cancer; GC, gastric cancer; BC, breast cancer.