Table 1.

Nonsyndromic Tooth Agenesis: Genes and Associated Dental Phenotypes

GeneMOIDental PhenotypeSelected Allelic Syndromic Disorder(s) 1
OligodontiaHypodontiaMicrodontiaOther

AXIN2 2

AD+Oligodontia-colorectal cancer syndrome (OMIM 608615)
EDA XL++ (mandibular incisors, maxillary lateral incisors) Hypohidrotic ectodermal dysplasia
EDAR AD 3++ (mandibular second premolars)
FGFR1 AD+ (incisor & premolar agenesis)Kallmann syndrome (See Isolated Gonadotropin-Releasing Hormone Deficiency.)

GREM2 4

AD++Taurodontism
IRF6 AD+ (incisor & premolar agenesis)Van der Woude & popliteal pterygium syndromes (See IRF6-Related Disorders.)

LRP6 5

AD+ (incisor & premolar agenesis)AD coronary artery disease (OMIM 610947)

MSX1 6

(AD) 7++ (agenesis of permanent molars)Witkop syndrome, Wolf-Hirschhorn syndrome, Pierre Robin syndrome

PAX9 8

AD++ (agenesis of permanent 2nd molars followed by 2nd premolars)Smaller tooth dimensions; agenesis of anterior teeth rarely reported

WNT10A 9, 10

(AD) 11
AR		++ (no particular preferential tooth type missing)TaurodontismOdonto-onycho-dermal dysplasia, Schöpf-Schulz-Passarge syndrome, hypohydrotic ectodermal dysplasia

WNT10B 12

AD++ (lateral incisor agenesis)
1.

See Table 2.

2.
3.

Zeng et al [2017], Mumtaz et al [2020]; note that some forms of hypohidrotic ectodermal dysplasia are due to biallelic pathogenic variants in EDAR and are inherited in an autosomal recessive manner (see Table 2).

4.
5.
6.
7.

Complex inheritance, mostly autosomal dominant

8.
9.
10.

The most common WNT10A pathogenic variant found in individuals with nonsyndromic tooth agenesis is c.682T>A (p.Phe228Ile), which is estimated to be present in about 3.43% of the general population [Vink et al 2014]. However, incomplete penetrance of the phenotype has been reported in heterozygotes with this variant [Yang et al 2015].

11.

Complex inheritance has also been proposed (see Genetic Risk Assessment).

12.

From: Nonsyndromic Tooth Agenesis Overview

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