The First Year Experience of Newborn Screening for Pompe Disease in California
| Autor: | Jamie Matteson, Deepika Mathur, Hao Tang, Lisa Feuchtbaum, Richard S. Olney, Stanley Sciortino, Tracey Bishop |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Pediatrics
medicine.medical_specialty Population Disease Gene mutation Article California 03 medical and health sciences 0302 clinical medicine Immunology and Microbiology (miscellaneous) Disease Screening 030225 pediatrics medicine education Allele frequency Newborn screening education.field_of_study newborn screening business.industry lcsh:RJ1-570 nutritional and metabolic diseases Pompe disease Obstetrics and Gynecology lcsh:Pediatrics Pediatrics Perinatology and Child Health Pseudodeficiency alleles Pacific islanders business 030217 neurology & neurosurgery |
| Zdroj: | International Journal of Neonatal Screening Volume 6 Issue 1 International Journal of Neonatal Screening, Vol 6, Iss 1, p 9 (2020) |
| ISSN: | 2409-515X |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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