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

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

  • Arch Oral Biol. 2013 May;58(5):462-6. doi: 10.1016/j.archoralbio.2012.12.008.
S Alfawaz 1,  F Fong,  V Plagnol,  F S L Wong,  J Fearne,  D P Kelsell
Affiliations

Affiliation

  • 1 Centre for Oral Growth & Development, Barts & The London School of Medicine and Dentistry, Queen Mary University of London, Turner Street, London E1 2AD, UK.
PMID: 23317772 DOI: 10.1016/j.archoralbio.2012.12.008
Abstract

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.

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