Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study

Journal of Inherited Metabolic Disease
Claudio SempliciniFrench Pompe Study Group

Abstract

Pompe disease (PD) is caused by a deficiency of lysosomal acid α-glucosidase resulting from mutations in the GAA gene. The clinical spectrum ranges from a rapidly fatal multisystemic disorder (classic PD, onset < 1 year) to a milder adult onset myopathy. The aims of this study were to characterize the GAA mutations, to establish the disease epidemiology, and to identify potential genotype-phenotype correlations in French late-onset PD patients (onset ≥ 2 years) diagnosed since the 1970s. Data were collected from the two main laboratories involved in PD diagnosis and from the French Pompe registry. Two hundred forty-six patients (130 females and 116 males) were included, with a mean age at diagnosis of 43 years. Eighty-three different mutations were identified in the GAA gene, among which 28 were novel. These variants were spread all over the sequence and included 42 missense (one affecting start codon), 8 nonsense, 15 frameshift, 14 splice mutations, 3 small in-frame deletions, and one large deletion. The common c.-32-13T>G mutation was detected in 151/170 index cases. Other frequent mutations included the exon 18 deletion, the c.525del, and the missense mutations c.1927G>A (p.Gly643Arg) and c.655G>A (p.Gly219Arg). Patients car...Continue Reading

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Citations

Mar 18, 2019·Journal of Clinical Pathology·Marija MeznaricLea Leonardis
Jul 26, 2019·Human Mutation·Arnold J J Reuser On Behalf Of The Pompe Registry Sites
Jul 17, 2019·Journal of Clinical Pathology·Tim M ReynoldsUNKNOWN Collaborators and research nurses as listed below
Jun 10, 2020·Journal of Inherited Metabolic Disease·Claudio SempliciniUNKNOWN French Pompe Study Group
May 10, 2020·Molecular Genetics and Metabolism Reports·Monique PiraudUNKNOWN French Pompe study group
Aug 19, 2021·Human Mutation·Monica Y NiñoW W M Pim Pijnappel
Dec 21, 2021·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·Céline TardPascal Laforêt

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