Article
Urofacial (Ochoa) syndrome with a founder pathogenic variant in the HPSE2 gene: a case report and mutation origin.
Journal of applied genetics - 1 Sept 2025
Del Valle-Peréz Manuela, Mejía-García Alejandro, Echeverri-López Dayana, Gallo-Bonilla Katherine, Tejada-Moreno Johanna A, Villegas-Lanau Andrés, Chvatal-Medina Mateo, Restrepo Jorge E, Cuartas-Montoya Gina, Zapata-Builes Wildeman
Abstract excerpt
Urofacial syndrome or Ochoa syndrome (UFS or UFOS) is a rare disease characterized by inverted facial expression and bladder dysfunction that was described for the first time in Colombia. It is an autosomal recessive pathology with mutations in the HPSE2 and LRIG2 genes. However, 16% of patients do not have any mutations associated with the syndrome. Despite the importance of neurobiology in its pathophysiology,...
Topics
- Humans
- Male
- Adult
- Mutation
- Urologic Diseases
- Founder Effect
- Phenotype
- Facies