In affected members of 3 families with odontoonychodermal dysplasia (OODD; 257980) and 1 proband of a family with Schopf-Schulz-Passarge syndrome (SPSS; 224750), Bohring et al. (2009) identified homozygosity for a 321C-A transversion in the WNT10A gene, resulting in a cys107-to-ter (C107X) substitution that was not found in 200 control chromosomes. In 2 additional probands with OODD, the C107X mutation was found in compound heterozygosity with a phe228-to-ile (F228I; 606268.0003) mutation, and in a brother and sister who had oligodontia and sparse body hair and eyebrows as their only manifestations, the C107X mutation was found in compound heterozygosity with an arg128-to-gln (R128Q; 606268.0004) mutation. Of 18 heterozygous carriers of the C107X mutation, 10 exhibited some phenotypic manifestation, including anomalies of teeth, skin, and nails.
In 2 unrelated patients with nonsyndromic tooth agenesis (STHAG4; 150400), van den Boogaard et al. (2012) identified heterozygosity for the C107X mutation in the WNT10A gene; in 3 other patients, the mutation was present in compound heterozygosity with the F228I mutation. In addition, van den Boogaard et al. (2012) identified mutations in the C107X mutation in 6 patients with tooth agenesis who had mild features of ectodermal dysplasia, but who did not exhibit the characteristic features of OODD; 2 were heterozygous, 1 was homozygous, and 3 were compound heterozygous for C207X and F228I.
In 4 probands with tooth agenesis and features of ectodermal dysplasia, Plaisancie et al. (2013) identified the C107X mutation in the WNT10A gene, present in homozygosity in 1 patient and in compound heterozygosity in 3 patients, including with the F228I mutation in 1 proband. In the latter family, the proband's unaffected father and mother were each heterozygous for 1 of the mutations.
