Odonto-onycho-dermal dysplasia (OODD) is a rare, autosomal recessive disorder caused by pathogenic variants in the WNT10A gene, which plays a crucial role in ectodermal tissue development, including teeth, hair, nails, and skin. We describe an 18-year-old male of Afghan origin, born to consanguineous parents, who was evaluated during an extensive genetic family screening for an unrelated ataxia variant. The patient reported long-standing dental abnormalities, sparse hair, nail defects and hyperhidrosis. Examination revealed severe hypodontia, atypical dental morphology, retained deciduous teeth, smooth tongue due to reduced lingual papillae and dysmorphic nail growth. Trio whole-genome sequencing identified a novel homozygous frameshift variant in WNT10A c.694del, p. (Arg232GlyfsTer11) in the index patient. Segregation within the trio confirmed heterozygosity in both parents, supporting the diagnosis of OODD. Our case expands the spectrum of WNT10A mutations causing OODD by identifying a novel causative variant and highlights the value of comprehensive genetic screening, especially in populations with high consanguinity for assessing incidental clinically relevant findings and diagnosing rare conditions.
Kalaszi et al. (Thu,) studied this question.