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

## TL;DR

Two Ecuadorian patients with Rothmund-Thomson syndrome type 2 share a common genetic variant, highlighting the importance of molecular diagnosis in underrepresented populations.

## Contribution

Identifies a recurrent RECQL4 variant in Ecuadorian RTS2 patients and a novel variant in one case, emphasizing the need for molecular diagnosis.

## Key findings

- Two Ecuadorian RTS2 patients share a previously identified RECQL4 variant.
- A new pathogenic variant was found in one patient, not previously reported in Ecuador.
- Molecular diagnosis is crucial for accurate RTS2 classification and clinical care in underrepresented populations.

## 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.