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

[oligodontia]

Recently , several genes have been reported with mutations or variants that underlie a number of syndromic and non-syndromic forms of oligodontia including MSX 1 , PAX 9 , AXIN 2 , EDA and WNT 10 A . This study aimed to identify the causal mutations in a consanguineous Pakistan family with oligodontia and microdontia .Exome sequencing was performed in two of affected members of the Pakistan family .The exome sequencing data revealed that the affected individuals were homozygous with a novel mutation in exon 8 of the SMOC 2 gene , c .681 T >A (p .C 2 27 X ).This is the second report describing SMOC 2 mutations with oligodontia and microdontia underlining the key role for this signalling molecule in tooth development .

Diseases
Validation

Diseases presenting "microdontia underlining the key role for this signalling molecule in tooth development" symptom

oligodontia

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