Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene.
Arch Oral Biol
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.
|Title:||Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene.|
|Keywords:||Adolescent, Anodontia, Base Sequence, Calcium-Binding Proteins, Child, Consanguinity, DNA Mutational Analysis, Female, Genes, Recessive, Homozygote, Humans, London, Male, Molecular Sequence Data, Mutation, Odontogenesis, Pakistan, Pedigree|
|UCL classification:||UCL > School of Life and Medical Sciences
UCL > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > School of Life and Medical Sciences > Faculty of Life Sciences > Biosciences (Division of)
UCL > School of Life and Medical Sciences > Faculty of Life Sciences > Biosciences (Division of) > Genetics, Evolution and Environment > UCL Genetics Institute
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