Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population

Lee, Jung Hwan; Shin, Jin‐Hong; Park, Hyung Jun; Kim, Sook Za; Jeon, Young Mi; Kim, Hye‐Kyoung; Kim, Dae Seong; Choi, Young Chul

doi:10.1016/j.nmd.2017.03.005

Cited by 15 publications

(17 citation statements)

References 35 publications

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“…In our study, Pompe disease-positive newborns with Asian and Pacific Islander (API) ancestry had a high occurrence of pseudodeficiency alleles, especially the c.[1726G>A;2065G>A] variant, which represents 80% of all the pseudodeficiency mutations. This finding confirmed the results from other studies with Asian populations [ 22 , 42 , 43 ]. Unlike these other studies, we did not find any Pompe disease cases (IOPD or LOPD) among nearly 70,000 API newborns, and we only found one c.1935C>A (linked to c.[1726G>A;2065G>A]), which was identified as the most common pathogenic GAA variants among Asian countries.…”

Section: Discussionsupporting

confidence: 92%

The First Year Experience of Newborn Screening for Pompe Disease in California

Tang

Feuchtbaum

Sciortino

et al. 2020

IJNS

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The California Department of Public Health started universal newborn screening for Pompe disease in August 2018 with a two-tier process including: (1) acid alpha-glucosidase (GAA) enzyme activity assay followed by, (2) GAA gene sequencing analysis. This study examines results from the first year of screening in a large and diverse screening population. With 453,152 screened newborns, the birth prevalence and GAA enzyme activity associated with various types of Pompe disease classifications are described. The frequency of GAA gene mutations and allele variants are reported. Of 88 screen positives, 18 newborns were resolved as Pompe disease, including 2 classic infantile-onset and 16 suspected late-onset form. The c.-32-13T>G variant was the most common pathogenic mutation reported. African American and Asian/Pacific Islander newborns had higher allele frequencies for both pathogenic and pseudodeficiency variants. After the first year of Pompe disease screening in California, the disease distribution in the population is now better understood. With the ongoing long-term follow-up system currently in place, our understanding of the complex genotype-phenotype relationships will become more evident in the future, and this should help us better understand the clinical significance of identified cases.

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Section: Discussionsupporting

confidence: 92%

The First Year Experience of Newborn Screening for Pompe Disease in California

Tang

Feuchtbaum

Sciortino

et al. 2020

IJNS

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“…The major manifestations include cardiomegaly, hypotonia, muscular weakness, and hepatomegaly. The other phenotype is late-onset Pompe disease (LOPD), which is usually recognized in adults because of the elevated enzyme activity of creatinine kinase [12], [13]. For newborn screening, the population of IOPD must be identified from that of healthy subjects.…”

Section: Introductionmentioning

confidence: 99%

Enzyme activities of α-glucosidase in Japanese neonates with pseudodeficiency alleles

Mashima

Okuyama

2017

Molecular Genetics and Metabolism Reports

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Lysosomal storage disorders (LSDs) are caused by defective enzyme activities in lysosomes, characterized by the accumulation of sphingolipids, glycolipids, oligosaccharides, mucopolysaccharides, the oxidation products of cholesterol, and other biological substances. A growing number of clinical studies have suggested the enhanced efficacy of existing therapies, including enzyme replacement therapy, which is effective when it is initiated during the presymptomatic period. Thus, the identification of disease-affected individuals by newborn screening has been considered an effective platform. Previous studies have suggested that the discrimination of infantile-onset Pompe disease (IOPD) requires multi-step examination of GAA enzyme activity using the fluorometric technique. In sharp contrast, the MS/MS-based technique can identify the population of IOPD and the pseudodeficiency alleles of the GAA enzyme [Liao HC et al. Clin Chem (2017) in press; doi: http://dx.doi.org/10.1373/clinchem.2016.269027]. To determine whether MS/MS-based assay can identify these two populations in Japanese neonates, we first performed a validation study of this assay using flow-injection analysis (FIA)-MS/MS and liquid chromatography (LC)-MS/MS followed by examination of GAA enzyme activity in our population. By minimizing the effect of substrate-derived in-source decomposition products, the activities of 6 LSD enzymes were quantified in FIA-MS/MS and LC-MS/MS. The mean value of GAA activity with IOPD, pseudodeficiency alleles, and healthy controls by FIA-MS/MS were 1.0 ± 0.3 μmol/h/L (max, 1.3; min, 0.7; median, 1.2; n = 3), 2.7 ± 0.7 μmol/h/L (max, 4.5; min, 1.5; median, 2.5; n = 19), and 12.9 ± 5.4 μmol/h/L (max, 29.6; min, 2.5; median, 11.0; n = 83), respectively. These results suggest that the population of GAA with pseudodeficiency alleles has approximately 20% of GAA enzyme activity compared to controls, providing the preliminary evidence to estimate the cut-off values in the Japanese population using this technique.

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“…The GAA variants in Korean or Japanese patients with Pompe disease reported in previous studies are described in Table 1 . A total of 10 studies evaluating the GAA variants in Korean patients with Pompe disease were reviewed [ 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 ]. To date, 17 different PLPVs (total of 59 PLPV alleles) in GAA have been reported in 32 Korean patients with Pompe disease ( Table 1 ).…”

Section: Resultsmentioning

confidence: 99%

Two Approaches for a Genetic Analysis of Pompe Disease: A Literature Review of Patients with Pompe Disease and Analysis Based on Genomic Data from the General Population

Park¹

2021

Children

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In this study, two different approaches were applied in the analysis of the GAA gene. One was analyzed based on patients with Pompe disease, and the other was analyzed based on GAA genomic data from unaffected carriers in a general population genetic database. For this, GAA variants in Korean and Japanese patients reported in previous studies and in patients reported in the Pompe disease GAA variant database were analyzed as a model. In addition, GAA variants in the Korean Reference Genome Database (KRGDB), the Japanese Multi Omics Reference Panel (jMorp), and the Genome Aggregation Database (gnomAD) were analyzed. Overall, approximately 50% of the pathogenic or likely pathogenic variants (PLPVs) found in unaffected carriers were also found in real patients with Pompe disease (Koreans, 57.1%; Japanese, 46.2%). In addition, there was a moderate positive correlation (Spearman’s correlation coefficient of 0.45–0.69) between the proportion of certain PLPVs in patients and the minor allele frequency of their variants in a general population database. Based on the analysis of general population databases, the total carrier frequency for Pompe disease in Koreans and Japanese was estimated to be 1.7% and 0.7%, respectively, and the predicted genetic prevalence was 1:13,657 and 1:78,013, respectively.

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Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population

Cited by 15 publications

References 35 publications

The First Year Experience of Newborn Screening for Pompe Disease in California

The First Year Experience of Newborn Screening for Pompe Disease in California

Enzyme activities of α-glucosidase in Japanese neonates with pseudodeficiency alleles

Two Approaches for a Genetic Analysis of Pompe Disease: A Literature Review of Patients with Pompe Disease and Analysis Based on Genomic Data from the General Population

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