A screen of mutations in 123 families with ectodermal dysplasia or isolated severe oligodontia. 11 had mutations in WNT10A, 4 of which were homozygous or compound heterezoygous for this variant (two of each). This variant was also seen in 2 out of 396 control chromosomes. Counting alleles, this is case+: 6, case-: 240, control+: 2, control-: 394. This has p = 0.059.
54% of heterozygotes are reported to have some mild symptoms similar to homozygotes, including: a few missing permanent teeth, nail dystrophy, dry skin, thickened palm/sole skin, or sparse hair, eyebrows, or eyelashes. Males had a higher incidence of tooth anomalies.
Calculating LOD score: Pedigrees for the four families (073, 112, 122, 123) is in figure 1. Not counting probands, the genotypes of 5 proband siblings predicts their phenotype (in all cases unaffected heterozygotes or non-carriers), each has a 75% chance of happening randomly. LOD = log10 ( 1 / ( .75**5)) = 0.62.