WNT10Bpathogenic variations are loss-of-function mutations. When both copies of this gene are inactivated, the patient show typical Split Hand/Foot Malformation. Some heterozygous patients with only one loss-of-function variation exhibit a mild form of split hands and/or split feet. Teeth agenesis, small or cone-shaped teeth have also been described with heterozygous WNT10Bloss-of-function. No obvious phenotype-genotype correlation has been established yet to explain why some heterozygous patients have teeth anomalies and some others have mild features of SHFM.
WNT10B