Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene.

OBJECTIVE

Recently, several genes have been reported with mutations or variants that underlie a number of syndromic and non-syndromic forms of oligodontia including MSX1, PAX9, AXIN2, EDA and WNT10A. This study aimed to identify the causal mutations in a consanguineous Pakistan family with oligodontia and microdontia.

DESIGN

Exome sequencing was performed in two of affected members of the Pakistan family.

RESULTS

The exome sequencing data revealed that the affected individuals were homozygous with a novel mutation in exon 8 of the SMOC2 gene, c.681T>A (p.C227X).

CONCLUSIONS

This is the second report describing SMOC2 mutations with oligodontia and microdontia underlining the key role for this signalling molecule in tooth development.