S Alfawaz1, F Fong, V Plagnol, F S L Wong, J Fearne, D P Kelsell. 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.
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.
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.
Authors: Thomas W Marchant; Edward J Johnson; Lynn McTeir; Craig I Johnson; Adam Gow; Tiziana Liuti; Dana Kuehn; Karen Svenson; Mairead L Bermingham; Michaela Drögemüller; Marc Nussbaumer; Megan G Davey; David J Argyle; Roger M Powell; Sérgio Guilherme; Johann Lang; Gert Ter Haar; Tosso Leeb; Tobias Schwarz; Richard J Mellanby; Dylan N Clements; Jeffrey J Schoenebeck Journal: Curr Biol Date: 2017-05-25 Impact factor: 10.834