Letter regarding “The usefulness of the genetic panel in the classification and refinement of diagnostic accuracy of Mexican patients with Marfan syndrome and other connective tissue disorders”

Ana M. Serrano Ardila; Gilda S. Garza Mayén; Alejandro Gaviño-Vergara

doi:10.17305/bb.2024.10799

Authors

Ana M. Serrano Ardila The American British Cowdray Medical Center, Mexico City, Mexico
Gilda S. Garza Mayén Unidad de Genética, Hospital Ángeles Lomas, Mexico City, Mexico
Alejandro Gaviño-Vergara Clinical Genetics CRIT Quintana Roo, Mexico

DOI:

https://doi.org/10.17305/bb.2024.10799

Keywords:

Genetic panel, connective tissue disorders, genotype-phenotype correlations, clinical geneticists, diagnostic accuracy, molecular studies, variant clasification

Abstract

Dear Editor,

We have read the article “The usefulness of the genetic panel in the classification and refinement of diagnostic accuracy of Mexican patients with Marfan syndrome and other connective tissue disorders”, recently published in your esteemed journal.

We are a team dedicated to diagnosing, approaching, and managing patients with connective tissue disorders, particularly hypermobile spectrum disorders (HSD) and Ehlers–Danlos syndromes (EDS). We appreciate the research group’s effort to address the complexity of connective tissue disorders using a multi-panel genetic approach and their analysis of genotype–phenotype associations in a cohort of Mexican patients.

However, we would like to express our concern regarding two specific points that we consider crucial for the comprehensive understanding and management of these disorders.

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Author Biographies

Ana M. Serrano Ardila, The American British Cowdray Medical Center, Mexico City, Mexico

Orthopaedic surgeon trained at the American British Cowdray Medical Center and the National Autonomous University of Mexico (UNAM).

Member of the Mexican College of Orthopedics (CMO), the Arthroscopy Association of North America (AANA), and the Colombian Society of Orthopedic Surgery and Traumatology (SCCOT). Certified by the Mexican Council of Orthopedics and Traumatology (CMOT).

Co-editor of the Acta Ortopédica Mexicana (AOM) journal and a member of the Health Professionals Directory of the Ehlers-Danlos Society (EDS).
Gilda S. Garza Mayén, Unidad de Genética, Hospital Ángeles Lomas, Mexico City, Mexico

- Medical Specialist in Genetics (National Institute of Pediatrics - INP) and Advanced Specialty in Perinatal Genetics (National Institute of Perinatology - INPer), certified by the Mexican Council of Genetics A.C.
- Master in Medical Sciences (Anáhuac University)
- Geneticist at the Genetics Unit, Hospital Angeles Lomas, and Neurodevelopment Unit, Hospital Español.- Active member of the Health Professionals Directory of the Ehlers-Danlos Society, Mexican Association of Human Genetics (AMGH), and American College of Medical Genetics and Genomics (ACMG)
Alejandro Gaviño-Vergara, Clinical Genetics CRIT Quintana Roo, Mexico

Medical Specialist in Medical Genetics.
President of the Mexican Association of Human Genetics (AMGH).
Head of Education and Research at CRIT, Quintana Roo, Mexico.
Coordinator of the National Telemedicine and Patient Registry Project for Genetic Diseases, Fundación Teletón México.
Professor at Anáhuac University and La Salle Cancún.
Member of the Medical College of Mexico. Cancún, Quintana Roo.