Molecular characteristics

Exon3: c.G433A:p.Ala145Thr
Exon19: c.A4219T:p.Lys1407X
Exon6: c.C1039T:p.Pro347Ser
Exon13: c:G2503T:pAla835Ser
Exon13: c:C2660T:pAla887Val
Exon19: c.5039 T > C:p.Ile1680Tyr
Exon17: c.5800G > T:p.Ala1934Ser
Exon14: c.3131C > T:p.Ser1044Leu
Exon19: c.3877A > G:p.Ile1293Val
Exon7: c.901G > A:p.Gly301Arg
Exon2: c.A185G:p.Asn62Ser

The CDH7, PAX1, MYO18B, SMARCC1, and TBX6genes have been identified to cause certain autosomal dominant or autosomal recessive syndromes associated with vertebral malformations. Additionally, pathogenetic variants in genes such as DII3, Lfng, Mesp2, Hes7, and Tbx6 which are involved in the NOTCH signalling pathway are known to produce somite or vertebral and rib abnormalities in mice.