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

被引：0

作者：

Martinez-Montoya, Valentina ^{[1
,2
]}

Sanchez-Sanchez, Luz Maria ^{[3
]}

Sandoval-Pacheco, Roberto ^{[4
]}

Castro, Diana Monica Anaya ^{[5
]}

Arellano-Valdez, Carmen Araceli ^{[6
]}

Avila-Rejon, Carmen Amor ^{[7
]}

Aguilar-Juarez, Pedro Alejandro ^{[8
]}

Espino-Pluma, Martin ^{[9
]}

Gonzalez-Santillanes, Cruz Antonio ^{[10
]}

Martinez-Segovia, Rosa Isela ^{[11
]}

Olmos-Morfin, Dorian ^{[12
]}

la Torre, Ofelia Padilla-De ^{[13
]}

Solis-Sanchez, Ishar ^{[14
]}

Espinosa, Monica Vazquez-Del Mercado ^{[15
]}

Villarroel-Cortes, Camilo Ernesto ^{[16
]}

Velarde-Felix, Jesus Salvador ^{[17
]}

Lopez-Valdez, Jaime ^{[18
]}

Olaiz-Urbina, Julio ^{[19
]}

Ricardez-Marcial, Edgar ^{[20
]}

Vergara-Sanchez, Imelda ^{[21
]}

Radillo-Diaz, Pablo ^{[22
]}

Kazakova, Ekaterina ^{[22
]}

De la Fuente-Cortez, Beatriz ^{[23
]}

del Carmen Marquez-Quiroz, Luz ^{[24
,25
]}

Torres-Octavo, Benjamin ^{[26
]}

Diaz-Martinez, Rubicel ^{[27
]}

机构：

[1] Inst Oftalmol Conde ABC Santa Fe, Prolongacion Vasco de Quiroga 4001,Torre A,4to pis, Mexico City 0537, Mexico

[2] Inst Med Vis, Genet Serv, Mexico City, Mexico

[3] Inst Mexicano Seguro Social IMSS, Hosp Especial UMAE 25, Pediat Serv, Monterrey, Nuevo Leon, Mexico

[4] Hosp Cent Mil Secretaria Def Nacl, Pediat Emergency Serv, Mexico City, Mexico

[5] Hosp Gen Dr Ernesto Ramos Bours, Neurol Serv, Secretaria Salud Publ, Hermosillo, Sonora, Mexico

[6] IMSS, Ctr Med Nacl Occidente, Pediat Internal Med & Rheumatol Serv, High Specialty Med Unit,Hosp Pediat, Guadalajara, Jalisco, Mexico

[7] Hosp Alta Especial Veracruz, Genet Dept, Serv Salud Veracruz, Xalapa, Veracruz, Mexico

[8] Ctr Med Nacl 20 Noviembre, Neurol Serv, Inst Segur & Serv Sociales Trabajadores Estado ISS, Mexico City, Mexico

[9] IMSS, Internal Med Serv, Clin Enfermedades Lisosomales, Hosp Gen Zona 1,Tlaxcala Xicohtencatl, Tlaxcala, Mexico

[10] IMSS, Hosp Gen Reg 1, Rehabil Serv, Culiacan, Sinaloa, Mexico

[11] Inst Mexicano Seguro Social IMSS, Hosp Especial UMAE 25, Internal Med Serv, Monterrey, Nuevo Leon, Mexico

[12] Ctr RehabilInfantil Teleton, Morelia, Michoacan, Mexico

[13] IMSS, Ctr Med Nacl Occidente, Neurol Serv, Guadalajara, Jalisco, Mexico

[14] Hosp Espanol Veracruz, Ctr Neurol, Clin Enfermedades Neuromusculares, Veracruz, Veracruz, Mexico

[15] Hosp Civil Dr Juan I Menchaca, Rheumatol Serv, Hosp Civil Dr, Guadalajara, Jalisco, Mexico

[16] Inst Nacl Pediat, Genet Serv, Mexico City, Mexico

[17] Univ Autonoma Sinaloa, Culiacan, Sinaloa, Mexico

[18] Centenario Hosp Miguel Hidalgo, Genet Serv, Secretaria Salud, Aguascalientes, Aguascalientes, Mexico

[19] IMSS, Pediat Serv, Hosp Gen Zona 1, La Paz, Baja California, Mexico

[20] IMSS, Ctr Med Nacl Raza, Genet Serv, Mexico City, Mexico

[21] IMSS, Pediat Neurol Serv, Unidad Med Alta Especial, Merida, Yucatan, Mexico

[22] Sanofi Genzyme, Med Dept Rare Dis, Mexico City, Mexico

[23] Univ Autonoma Nuevo Leon, Hosp Univ, Genet Serv, Monterrey, Nuevo Leon, Mexico

[24] Genos Med, Mexico City, Mexico

[25] Univ Nacl Autonoma Mexico, Mexico City, Mexico

[26] Inst Nacl Ciencias Med & Nutr Salvador Zubiran, Lab Fibra Nerviosa Delgada, Mexico City, Mexico

[27] Hosp Reg Alta Especial Nino, Genet Serv, Secretaria Salud, Villahermosa, Tabasco, Mexico

来源：

MOLECULAR GENETICS & GENOMIC MEDICINE | 2024年 / 12卷 / 07期

关键词：

acid alpha-glucosidase; GAA gene; metabolic myopathy; phenotype-genotype correlation; Pompe disease; pseudodeficiency allele; rare disease; LYSOSOMAL STORAGE DISORDERS; GAA GENE; SCREENING-PROGRAM; GUIDELINES; VARIANTS;

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Background: 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. Methods: We performed a retrospective study of clinical records of patients diagnosed with LOPD, IOPD or pseudodeficiency. Results: Twenty-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). Conclusion: 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-wide studies are required to better characterize the incidence of this disease in Mexican population.

引用

页数：17

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