PDF(Pubmed)
Abstract：
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).
CONCLUSIONS: 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.
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).
CONCLUSIONS: 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.
摘要：
背景：庞皮病（PD）是由GAA基因变异引起的代谢性肌病，导致酶活性不足。我们旨在描述一系列墨西哥患者的临床特征和相关遗传变异。
方法：我们对诊断为LOPD的患者的临床记录进行了回顾性研究，IOPD或假性缺乏。
结果：29名患者被纳入研究，包括这三种形式。总的来说,症状发作年龄为0.1~43岁.最常见的变异是c.-32-13T>G，在14个等位基因中检测到。在GAA基因中鉴定的23种不同变体中，14人被归类为致病性，5人可能致病，1是不确定意义的变体。两个变体以顺式排列遗传，两个是假性缺陷相关的良性等位基因。我们鉴定了两个新的变体(c.1615G>A和c.1076-20_1076-4delAAGTCGGGCGTTGGCCTG)。
结论：据我们所知，该系列代表了墨西哥PD患者最大的表型和基因型特征.我们系列的患者表现出LOPD和IOPD相关变异的组合，这可能与墨西哥人口的遗传多样性有关。需要进一步的全人群研究来更好地描述墨西哥人群中这种疾病的发病率。
方法：我们对诊断为LOPD的患者的临床记录进行了回顾性研究，IOPD或假性缺乏。
结果：29名患者被纳入研究，包括这三种形式。总的来说,症状发作年龄为0.1~43岁.最常见的变异是c.-32-13T>G，在14个等位基因中检测到。在GAA基因中鉴定的23种不同变体中，14人被归类为致病性，5人可能致病，1是不确定意义的变体。两个变体以顺式排列遗传，两个是假性缺陷相关的良性等位基因。我们鉴定了两个新的变体(c.1615G>A和c.1076-20_1076-4delAAGTCGGGCGTTGGCCTG)。
结论：据我们所知，该系列代表了墨西哥PD患者最大的表型和基因型特征.我们系列的患者表现出LOPD和IOPD相关变异的组合，这可能与墨西哥人口的遗传多样性有关。需要进一步的全人群研究来更好地描述墨西哥人群中这种疾病的发病率。
