A novel LRP6 variant in a Japanese family with oligodontia.
Hum Genome Var
; 8(1): 30, 2021 Jul 20.
Article
em En
| MEDLINE
| ID: mdl-34285199
ABSTRACT
Congenital tooth agenesis is a common anomaly in human development. We performed exome sequence analysis of genomic DNA collected from Japanese patients with tooth agenesis and their relatives. We found a novel single-nucleotide insertion in the LRP6 gene, the product of which is involved in Wnt/ß-catenin signaling as a coreceptor for Wnt ligands. The single-nucleotide insertion results in a premature stop codon in the extracellular region of the encoded protein.
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Base de dados:
MEDLINE
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article