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Table 2 Genetic findings in patients with Currarino syndrome

From: Novel MNX1 mutations and genotype–phenotype analysis of patients with Currarino syndrome

Case No.GeneExon No.Nucleotide changeAmino acid changeMutation typeInheritanceReportedACMG classificationEvidence of pathogenicity
1MNX11c.124G > Tp.Gly42XNonsenseMaternalNoPathogenicPVS1 PM2 PP4
2MNX11c.669-672delGCCTp.Leu223Leufsa61FrameshiftMaternalNoPathogenicPVS1 PM2 PP4
3MNX11c.264C > Ap.Cys88XNonsensede novoNoPathogenicPVS1 PS2 PM2 PP4
4MNX11c.401-402insCGCCGCp.Ala135insAlaAlaInframe insertionNAYesUncertain significancePM6 BP6
5aMNX13c.1205insCACCAGCCCGCGCCCCAGTp.X402Serfsa70FrameshiftPaternalNoPathogenicPVS1 PM2 PP1 PP4
6aMNX11c.70C > Tp.Gln24XNonsensePaternalNoPathogenicPVS1 PM2 PP1 PP4
7aMNX11c.70C > Tp.Gln24XNonsensePaternalNoPathogenicPVS1 PM2 PP1 PP4
8aMNX1Intron 1c.691 + 3G > TSplice region mutationMaternalNoLikely pathogenicPS3 PM2 PP1 PP4
9MNX13c.863G > Tp.Trp288LeuMissensePaternalYesLikely pathogenicPS1 PM2 PP3
10MNX12c.723C > Ap.Cys241XNonsenseMaternalNoPathogenicPVS1 PM2 PP1 PP4
11MNX1Intron 1c.691 + 3G > TSplice region mutationde novoNoPathogenicPS2 PS3 PM2 PP4
12TLE417c.1949C > Tp.Ser650LeuMissensede novoNoLikely pathogenicPS2 PM2 PP3 PP4
HOXB41c.48G > Tp.Lys16AsnMissensede novoNoLikely pathogenicPS2 PM2 PP3 PP4
13ITIH213c.1623_1626delAGAGp.Ile541Ilefsa12Frameshiftde novo0.00003252 in gnomADLikely pathogenicPS2 PM2 PP4
14CDH23c.453G > Tp.Arg151SerMissensede novoNoLikely pathogenicPS2 PM2 PP3 PP4
  1. aFamilial case
  2. Abbreviation: NA not available