Work

Case Report: Rothmund-Thomson syndrome type 2 in Ecuador: clinical and molecular insights into a recurrent RECQL4 variant

Year: 2026

Type: article

Abstract: 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.

Source: Frontiers in Pediatrics

DOI: 10.3389/fped.2026.1695356

Authors: Martina Isabella Armas Samaniego, Mateo Briones Vasquez, Mel Mariño Zambrano, Vanessa I. Romero, Karen Melo, Juan Carlos Pozo-Palacios

Institutions: Universidad San Francisco de Quito, Hospital de Especialidades Carlos Andrade Marín, University of Cuenca

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,801