Rothmund-Thomson Syndrome Type 2 in Ecuador: Clinical and Molecular Insights into a Recurrent RECQL4 Variant

Martina I Armas Samaniego¹Mateo Briones Vasquez²Mel Mariño Zambrano²Vanessa Romero^2,3*Karen Melo⁴Juan Carlos Pozo-Palacios⁵

• ¹Universidad San Francisco de Quito Colegio de Ciencias Biologicas y Ambientales, Quito, Ecuador
• ²Universidad San Francisco de Quito Colegio de Ciencias de la Salud, Quito, Ecuador
• ³Universidad San Francisco de Quito Instituto De Microbiología, QUITO, Ecuador
• ⁴Hospital Carlos Andrade Marin, Quito, Ecuador
• ⁵Universidad de Cuenca, Cuenca, Ecuador

This case report presents two Ecuadorian patients with Rothmund-Thomson syndrome type 2 (RTS2), an autosomal recessive disorder, who share a RECQL4 variant previously identified in another Ecuadorian patient, supporting the recurrent presence of this variant in the Ecuador population. Additionally, in the Case 2 patient with a suspected compound heterozygosity, a second pathogenic variant was identified that had not been previously reported in Ecuador. These findings underscore the importance of molecular diagnosis for accurate classification of RTS2, informed risk assessment, and improved clinical care, particularly in underrepresented populations.