An aberrant splice acceptor site due to a novel intronic nucleotide substitution in MSX1 gene is the cause of congenital tooth agenesis in a Japanese family.

An aberrant splice acceptor site due to a novel intronic nucleotide substitution in MSX1 gene is the cause of congenital tooth agenesis in a Japanese family.

Congenital tooth agenesis is caused by mutations in the MSX1, PAX9, WNT10A, or AXIN2 genes. Here, we report a Japanese family with nonsyndromic tooth agenesis caused by a novel nucleotide substitution in the intronic region between exons 1 and 2 of the MSX1 gene. Because the mutation is located 9 bp...

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Bibliographic Details
Main Authors: Tadashi Tatematsu, Masashi Kimura, Mitsuko Nakashima, Junichiro Machida, Seishi Yamaguchi, Akio Shibata, Hiroki Goto, Atsuo Nakayama, Yujiro Higashi, Hitoshi Miyachi, Kazuo Shimozato, Naomichi Matsumoto, Yoshihito Tokita
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4451150?pdf=render

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http://europepmc.org/articles/PMC4451150?pdf=render

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