First Three Years’ Experience of Mucopolysaccharidosis Type-I Newborn Screening in California - 23/11/23
, Jamie Matteson, MPH, Hao Tang, PhD, Deepika Mathur, MD, Rana Zahedi, PhD, CCS, Indranil Sen, PhD, CCS, Tracey Bishop, BS, Partha Neogi, PhD, CCS, Lisa Feuchtbaum, DrPH, MPH, Richard S. Olney, MD, MPH, Stanley Sciortino, PhD, MPHAbstract |
Objective |
To report on the first 3 years of mucopolysaccharidosis type I (MPS I) newborn screening (NBS) in the large and diverse state of California.
Study design |
The California Genetic Disease Screening Program began universal NBS for MPS I on August 29, 2018. The screening uses a 2-tiered approach: an α-L-iduronidase (IDUA) enzyme activity assay followed by DNA sequencing for variants in the IDUA gene.
Results |
As of August 29, 2021, 1 295 515 California newborns were screened for MPS I. In tier 1 of screening, 329 (0.025%) had an IDUA enzyme measurement below the cutoff and underwent tier-2 IDUA DNA sequencing. After tier 2, 146 (0.011%) newborns were screen positive, all of whom were referred to a metabolic Special Care Center for follow-up. After long-term follow-up, 7 cases were resolved as severe MPS I (Hurler syndrome) and 2 cases as attenuated MPS I for an MPS I birth prevalence of 1/143 946. DNA sequencing identified 107 unique IDUA variants among a total of 524 variants; 65% were known pseudodeficiency alleles, 25% were variants of uncertain significance, and 10% were pathogenic variants.
Conclusions |
As a result of a 2-tiered NBS approach, 7 newborns diagnosed with Hurler syndrome had received early treatment for MPS I. Continuation of California's long-term follow-up program will be crucial for further understanding the complex genotype–phenotype relationships of MPS I.
Le texte complet de cet article est disponible en PDF.Keywords : mucopolysaccharidosis type I, α-L-iduronidase, IDUA, lysosomal storage disorder, NBS, newborn dried blood spot
Abbreviations : CLIR, DBS, ERT, GAGs, HSCT, IDUA, LTFU, MPS I, NBS, SCC, STFU, VUS
Plan
| Some of the study data presented in this manuscript was previously presented as a poster presentation at the Association of Public Health Laboratories Newborn Screening Virtual Symposium, October 5-14, 2021 titled “First 2.5 Years' Experience of MPS I Newborn Screening in California”. |
Vol 263
Article 113644- décembre 2023 Retour au numéro
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