{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,2]],"date-time":"2026-01-02T07:40:08Z","timestamp":1767339608487,"version":"3.41.2"},"reference-count":37,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2024,7,3]],"date-time":"2024-07-03T00:00:00Z","timestamp":1719964800000},"content-version":"vor","delay-in-days":2,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Pompe 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We performed a retrospective study of clinical records of patients diagnosed with LOPD, IOPD or pseudodeficiency.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Twenty\u2010nine 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.\u201032\u201013T&gt;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\u2010related benign alleles. We identified two novel variants (c.1615 G&gt;A and c.1076\u201020_1076\u20104delAAGTCGGCGTTGGCCTG).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>To 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\u2010wide studies are required to better characterize the incidence of this disease in Mexican population.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2480","type":"journal-article","created":{"date-parts":[[2024,7,3]],"date-time":"2024-07-03T10:35:30Z","timestamp":1720002930000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Mutational spectrum and genotype\u2013phenotype correlation in Mexican patients with infantile\u2010onset and late\u2010onset Pompe disease"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6486-2804","authenticated-orcid":false,"given":"Valentina","family":"Martinez\u2010Montoya","sequence":"first","affiliation":[{"name":"Instituto de Oftalmolog\u00eda Conde ABC Santa Fe  Mexico City Mexico"},{"name":"Genetics Service Instituto M\u00e9dico de la Visi\u00f3n  Mexico City Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luz Mar\u00eda","family":"S\u00e1nchez\u2010S\u00e1nchez","sequence":"additional","affiliation":[{"name":"Pediatrics Service, Hospital de Especialidades UMAE 25 Instituto Mexicano del Seguro Social (IMSS)  Monterrey Nuevo Le\u00f3n Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Sandoval\u2010Pacheco","sequence":"additional","affiliation":[{"name":"Pediatrics Emergency Service Hospital Central Militar de Secretar\u00eda de la Defensa Nacional  Mexico City Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana M\u00f3nica Anaya","family":"Castro","sequence":"additional","affiliation":[{"name":"Neurology Service Hospital General \u201cDr. Ernesto Ramos Bours\u201d, Secretar\u00eda de Salud P\u00fablica  Hermosillo Sonora Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen Araceli","family":"Arellano\u2010Valdez","sequence":"additional","affiliation":[{"name":"Pediatric Internal Medicine and Rheumatology Service, High Specialty Medical Unit, Hospital de Pediatr\u00eda Centro M\u00e9dico Nacional de Occidente, IMSS  Guadalajara Jalisco Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen Amor","family":"\u00c1vila\u2010Rej\u00f3n","sequence":"additional","affiliation":[{"name":"Genetics Department Hospital de Alta Especialidad de Veracruz, Servicios de Salud de Veracruz  Xalapa Veracruz Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pedro Alejandro","family":"Aguilar\u2010Ju\u00e1rez","sequence":"additional","affiliation":[{"name":"Neurology Service, Centro M\u00e9dico Nacional 20 de Noviembre Instituto de Seguridad y Servicios Sociales de los Trabajadores del Estado (ISSSTE)  Mexico City Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mart\u00edn","family":"Espino\u2010Pluma","sequence":"additional","affiliation":[{"name":"Internal Medicine Service, Cl\u00ednica de Enfermedades Lisosomales, Hospital General de Zona 1, IMSS, Tlaxcala de Xicoht\u00e9ncatl  Tlaxcala Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cruz Antonio","family":"Gonz\u00e1lez\u2010Santillanes","sequence":"additional","affiliation":[{"name":"Rehabilitation Service, Hospital General Regional 1, IMSS  Culiac\u00e1n Sinaloa Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosa Isela","family":"Mart\u00ednez\u2010Segovia","sequence":"additional","affiliation":[{"name":"Internal Medicine Service, Hospital de Especialidades UMAE 25 Instituto Mexicano del Seguro Social (IMSS)  Monterrey Nuevo Le\u00f3n Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorian","family":"Olmos\u2010Morfin","sequence":"additional","affiliation":[{"name":"Centro de Rehabilitaci\u00f3n Infantil Telet\u00f3n  Morelia Michoac\u00e1n Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ofelia Padilla\u2010De","family":"la Torre","sequence":"additional","affiliation":[{"name":"Neurology Service, Centro M\u00e9dico Nacional del Occidente, IMSS  Guadalajara Jalisco Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ishar","family":"Sol\u00eds\u2010S\u00e1nchez","sequence":"additional","affiliation":[{"name":"Cl\u00ednica de Enfermedades Neuromusculares Centro Neurol\u00f3gico, Hospital Espa\u00f1ol de Veracruz  Veracruz Veracruz Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00f3nica V\u00e1zquez\u2010Del Mercado","family":"Espinosa","sequence":"additional","affiliation":[{"name":"Rheumatology Service, Hospital Civil Dr. Juan I. 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