Abstract
Congenital tooth agenesis is a common anomaly in humans. We investigated the etiology of human tooth agenesis by exome analysis in Japanese patients, and found a previously undescribed heterozygous deletion (NM_002448.3(MSX1_v001):c.433_449del) in the first exon of the MSX1 gene. The deletion leads to a frameshift and generates a premature termination codon. The truncated form of MSX1, namely, p.(Trp145Leufs*24) lacks the homeodomain, which is crucial for transcription factor function.
Highlights
Congenital tooth agenesis is a common human anomaly classified into two subtypes based on the number of permanently missing teeth, excluding the third molars
Hypodontia is a condition defined as the absence of 1–5 permanent teeth (OMIM: #106600, #604625); oligodontia is another type of tooth agenesis in which six or more teeth are absent (OMIM: #167416)
A series of genetic studies have revealed the causative genes of human tooth agenesis, which include muscle segment homeobox[1] (MSX1), paired box 9 (PAX9), ectodysplasin A (EDA), ectodysplasin A receptor (EDAR), and EDAR-associated death domain (EDARADD)
Summary
Congenital tooth agenesis is a common human anomaly classified into two subtypes based on the number of permanently missing teeth, excluding the third molars. A series of genetic studies have revealed the causative genes of human tooth agenesis, which include muscle segment homeobox[1] (MSX1), paired box 9 (PAX9), ectodysplasin A (EDA), ectodysplasin A receptor (EDAR), and EDAR-associated death domain (EDARADD). These proteins play pivotal roles during early human development, including odontogenesis; a mutation in one of the genes may cause both nonsyndromic and syndromic tooth agenesis[4,5,6,7,8,9].
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