Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

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Savarese , M , Torella , A , Musumeci , O , Angelini , C , Astrea , G , Bello , L , Bruno , C , Comi , G P , Di Fruscio , G , Piluso , G , Di Iorio , G , Ergoli , M , Esposito , G , Fanin , M , Farina , O , Fiorillo , C , Garofalo , A , Giugliano , T , Magri , F , Minetti , C , Moggio , M , Passamano , L , Pegoraro , E , Picillo , E , Sampaolo , S , Santorelli , F M , Semplicini , C , Udd , B , Toscano , A , Politano , L & Nigro , V 2018 , ' Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease ' , Neuromuscular Disorders , vol. 28 , no. 7 , pp. 586-591 .

Title: Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease
Author: Savarese, Marco; Torella, Annalaura; Musumeci, Olimpia; Angelini, Corrado; Astrea, Guja; Bello, Luca; Bruno, Claudio; Comi, Giacomo Pietro; Di Fruscio, Giuseppina; Piluso, Giulio; Di Iorio, Giuseppe; Ergoli, Manuela; Esposito, Gaia; Fanin, Marina; Farina, Olimpia; Fiorillo, Chiara; Garofalo, Arcomaria; Giugliano, Teresa; Magri, Francesca; Minetti, Carlo; Moggio, Maurizio; Passamano, Luigia; Pegoraro, Elena; Picillo, Ester; Sampaolo, Simone; Santorelli, Filippo Maria; Semplicini, Claudio; Udd, Bjarne; Toscano, Antonio; Politano, Luisa; Nigro, Vincenzo
Contributor organization: Department of Medical and Clinical Genetics
University of Helsinki
Date: 2018-07
Language: eng
Number of pages: 6
Belongs to series: Neuromuscular Disorders
ISSN: 0960-8966
Abstract: Mutations in the GAA gene may cause a late onset Pompe disease presenting with proximal weakness without the characteristic muscle pathology, and therefore a test for GAA activity is the first tier analysis in all undiagnosed patients with hyperCKemia and/or limb-girdle muscular weakness. By using MotorPlex, a targeted gene panel for next generation sequencing, we analyzed GAA and other muscle diseasegenes in a large cohort of undiagnosed patients with suspected inherited skeletal muscle disorders (n = 504). In this cohort, 275 patients presented with limb-girdle phenotype and/or an isolated hyperCKemia. Mutational analysis identified GAA mutations in ten patients. Further seven affected relatives were identified by segregation studies. All the patients carried the common GAA mutation c.-32-13T > G and a second, previously reported mutation. In the subcohort of 275 patients with proximal muscle weakness and/or hyperCKemia, we identified late-onset Pompe disease in 10 patients. The clinical overlap between Pompe disease and LGMDs or other skeletal muscle disorders suggests that GAA and the genes causing a metabolic myopathy should be analyzed in all the gene panels used for testing neuromuscular patients. However, enzymatic tests are essential for the interpretation and validation of genetic results. (C) 2018 Elsevier B.V. All rights reserved.
Subject: GAA
Late onset Pompe disease (LOPD)
Metabolic myopathies
Gene panels
3112 Neurosciences
3124 Neurology and psychiatry
Peer reviewed: Yes
Rights: cc_by_nc_nd
Usage restriction: openAccess
Self-archived version: acceptedVersion

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