Newborn screening for Fabry disease in the western region of Japan.
Fabry disease
GLA
Hypohidrosis
Newborn screening
α-Gal A
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Mar 2020
Mar 2020
Historique:
received:
24
11
2019
revised:
27
12
2019
accepted:
29
12
2019
entrez:
21
1
2020
pubmed:
21
1
2020
medline:
21
1
2020
Statut:
epublish
Résumé
Newborn screening (NBS) for Fabry disease (FD) is the best way to detect FD early prior to presentation of symptoms and is currently implemented in Taiwan and several states such as Illinois, Missouri, and Tennessee in the United States of America. In this report, we provide data from the first large-scale NBS program for FD in Japan. From August 2006 to December 2018, 599,711 newborns were screened; 26 variants, including 15 pathogenic variants and 11 variants of uncertain significance (VOUS; including eight novel variants), were detected in 57 newborns. Twenty-six male and 11 female newborns with pathogenic variants were diagnosed as hemizygous and heterozygous patients, respectively. Thirteen male and seven female newborns with VOUS were diagnosed as potential hemizygous and potential heterozygous patients, respectively. At the most recent follow up, three of 26 hemizygous patients had manifested symptoms and were receiving enzyme replacement therapy. The other patients were being followed up by clinicians. The frequency of FD (pathogenic variants + VOUS) in this study was estimated to be 1:7683, whereas that of patients with pathogenic variants was 1:11,854. In the future, the NBS system for FD may contribute to the detection of newborns not presenting manifestations related to FD and adults who have or have not developed manifestations related to FD.
Identifiants
pubmed: 31956509
doi: 10.1016/j.ymgmr.2019.100562
pii: S2214-4269(19)30215-0
pii: 100562
pmc: PMC6961758
doi:
Types de publication
Journal Article
Langues
eng
Pagination
100562Informations de copyright
© 2020 The Authors.
Déclaration de conflit d'intérêts
All authors declare that there are no conflicts of interest associated with this study.
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