Mutational spectrum and genotype–phenotype correlation in Mexican patients with infantile‐onset and late‐onset Pompe disease

Author:

Martinez‐Montoya Valentina12ORCID,Sánchez‐Sánchez Luz María3,Sandoval‐Pacheco Roberto4,Castro Diana Mónica Anaya5,Arellano‐Valdez Carmen Araceli6,Ávila‐Rejón Carmen Amor7,Aguilar‐Juárez Pedro Alejandro8,Espino‐Pluma Martín9,González‐Santillanes Cruz Antonio10,Martínez‐Segovia Rosa Isela11,Olmos‐Morfin Dorian12,la Torre Ofelia Padilla‐De13,Solís‐Sánchez Ishar14,Espinosa Mónica Vázquez‐Del Mercado15,Villarroel‐Cortés Camilo Ernesto16,Velarde‐Félix Jesús Salvador17,López‐Valdez Jaime18,Olaiz‐Urbina Julio19,Ricárdez‐Marcial Edgar20ORCID,Vergara‐Sánchez Imelda21,Radillo‐Díaz Pablo22,Kazakova Ekaterina22,De la Fuente‐Cortez Beatriz23,del Carmen Marquez‐Quiróz Luz24,Torres‐Octavo Benjamín25,Diaz‐Martinez Rubicel26

Affiliation:

1. Instituto de Oftalmología Conde ABC Santa Fe Mexico City Mexico

2. Genetics Service Instituto Médico de la Visión Mexico City Mexico

3. Pediatrics Service, Hospital de Especialidades UMAE 25 Instituto Mexicano del Seguro Social (IMSS) Monterrey Nuevo León Mexico

4. Pediatrics Emergency Service Hospital Central Militar de Secretaría de la Defensa Nacional Mexico City Mexico

5. Neurology Service Hospital General “Dr. Ernesto Ramos Bours”, Secretaría de Salud Pública Hermosillo Sonora Mexico

6. Pediatric Internal Medicine and Rheumatology Service, High Specialty Medical Unit, Hospital de Pediatría Centro Médico Nacional de Occidente, IMSS Guadalajara Jalisco Mexico

7. Genetics Department Hospital de Alta Especialidad de Veracruz, Servicios de Salud de Veracruz Xalapa Veracruz Mexico

8. Neurology Service, Centro Médico Nacional 20 de Noviembre Instituto de Seguridad y Servicios Sociales de los Trabajadores del Estado (ISSSTE) Mexico City Mexico

9. Internal Medicine Service, Clínica de Enfermedades Lisosomales, Hospital General de Zona 1, IMSS, Tlaxcala de Xicohténcatl Tlaxcala Mexico

10. Rehabilitation Service, Hospital General Regional 1, IMSS Culiacán Sinaloa Mexico

11. Internal Medicine Service, Hospital de Especialidades UMAE 25 Instituto Mexicano del Seguro Social (IMSS) Monterrey Nuevo León Mexico

12. Centro de Rehabilitación Infantil Teletón Morelia Michoacán Mexico

13. Neurology Service, Centro Médico Nacional del Occidente, IMSS Guadalajara Jalisco Mexico

14. Clínica de Enfermedades Neuromusculares Centro Neurológico, Hospital Español de Veracruz Veracruz Veracruz Mexico

15. Rheumatology Service, Hospital Civil Dr. Juan I. Menchaca Guadalajara Jalisco Mexico

16. Genetics Service Instituto Nacional de Pediatría Mexico City Mexico

17. Universidad Autónoma de Sinaloa Culiacán Sinaloa Mexico

18. Genetics Service, Centenario Hospital Miguel Hidalgo, Secretaría de Salud Aguascalientes Aguascalientes Mexico

19. Pediatrics Service, Hospital General de Zona 1, IMSS La Paz Baja California Sur Mexico

20. Genetics Service Centro Médico Nacional La Raza, IMSS Mexico City Mexico

21. Pediatrics Neurology Service Unidad Médica de Alta Especialidad, IMSS Mérida Yucatán Mexico

22. Medical Department for Rare Diseases Sanofi‐Genzyme Mexico City Mexico

23. Genetics Service Hospital Universitario, Universidad Autónoma de Nuevo León Monterrey Nuevo León Mexico

24. Genos Médica and Universidad Nacional Autónoma de México Mexico City Mexico

25. Laboratorio de Fibra Nerviosa Delgada Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán Mexico City Mexico

26. Genetics Service, Hospital Regional de Alta Especialidad del Niño, Secretaría de Salud Villahermosa Tabasco Mexico

Abstract

AbstractBackgroundPompe Disease (PD) is a metabolic myopathy caused by variants in the GAA gene, resulting in deficient enzymatic activity. We aimed to characterize the clinical features and related genetic variants in a series of Mexican patients.MethodsWe performed a retrospective study of clinical records of patients diagnosed with LOPD, IOPD or pseudodeficiency.ResultsTwenty‐nine patients were included in the study, comprising these three forms. Overall, age of symptom onset was 0.1 to 43 years old. The most frequent variant identified was c.‐32‐13T>G, which was detected in 14 alleles. Among the 23 different variants identified in the GAA gene, 14 were classified as pathogenic, 5 were likely pathogenic, and 1 was a variant of uncertain significance. Two variants were inherited in cis arrangement and 2 were pseudodeficiency‐related benign alleles. We identified two novel variants (c.1615 G>A and c.1076‐20_1076‐4delAAGTCGGCGTTGGCCTG).ConclusionTo the best of our knowledge, this series represent the largest phenotypic and genotypic characterization of patients with PD in Mexico. Patients within our series exhibited a combination of LOPD and IOPD associated variants, which may be related to genetic diversity within Mexican population. Further population‐wide studies are required to better characterize the incidence of this disease in Mexican population.

Publisher

Wiley

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