Oligodontia

Gene: WNT10B

Green List (high evidence)

Biallelic variants associated with Split hand/foot malformation. Reported in >3 unrelated families, with a Pakistani bias

Monoallelic variants associated with Tooth agenesis. Reported in >3 unrelated patients. Functional analysis demonstrated that the mutants could not efficiently induce endothelial differentiation of dental pulp stem cells.

Created: 20 Dec 2021, 6:35 a.m. | Last Modified: 20 Dec 2021, 6:35 a.m.

Panel Version: 0.10312

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Split-hand/foot malformation 6, OMIM #601906; Tooth agenesis, selective, 8, OMIM #617073

Publications

• 20635353
• 24211389
• 27321946

Green List (high evidence)

PMID: 27321946; 4 unrelated families (including 1 with 3 affecteds). 3x missense and 1x truncating. Luciferase assays demonstrated LoF compared to WT.


PMID: 29364501; 7 unrelated families all missense. Arg159Pro identified in 4 families and family#5 also had variants in WNT10A.
Re-evaluation of a previously reported family #8 - 1 heterozygote who only had tooth agenesis while 6 other relatives who were homozygotes also had split hand-foot malformation

NOTE: No genotype phenotype correlation between AD tooth agenesis and AR split hand-foot malformation - missense have also been reported in SHFM (PMID: 31050392). While it's noted that most reports of SHFM did not investigate oligodontia in their patients or carrier parents, PMID: 21554266 noted their carrier parents were healthy and clinically distinguishable
Sources: Literature

Created: 13 Sep 2021, 7:05 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Tooth agenesis, selective, 8 MIM#617073

Publications

• 27321946
• 29364501
• 21554266
• 31050392