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01-01-2016 | Short Communication

Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations

Authors: Michelangelo Cao, Marta Donà, Lucia Valentino, Claudio Semplicini, Alessandra Maresca, Matteo Cassina, Alessandra Torraco, Eva Galletta, Valeria Manfioli, Gianni Sorarù, Valerio Carelli, Roberto Stramare, Enrico Bertini, Rosalba Carozzo, Leonardo Salviati, Elena Pegoraro

Published in: Neurogenetics | Issue 1/2016

Abstract

Myopathy-lactic acidosis-sideroblastic anemia (MLASA) syndrome is a rare autosomal recessive disease. We studied a 43-year-old female presenting since childhood with mild cognitive impairment and sideroblastic anemia. She later developed hepatopathy, cardiomyopathy, and insulin-dependent diabetes. Muscle weakness appeared in adolescence and, at age 43, she was unable to walk. Two novel different mutations in the PUS1 gene were identified: c.487delA (p.I163Lfs*4) and c.884 G>A (p.R295Q). Quantitative analysis of DNA from skeletal muscle biopsies showed a significant increase in mitochondrial DNA (mtDNA) content in the patient compared to controls. Clinical and molecular findings of this patient widen the genotype-phenotype spectrum in MLASA syndrome.

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Title: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations
Authors: Michelangelo Cao
Marta Donà
Lucia Valentino
Claudio Semplicini
Alessandra Maresca
Matteo Cassina
Alessandra Torraco
Eva Galletta
Valeria Manfioli
Gianni Sorarù
Valerio Carelli
Roberto Stramare
Enrico Bertini
Rosalba Carozzo
Leonardo Salviati
Elena Pegoraro
Publication date: 01-01-2016
Publisher: Springer Berlin Heidelberg
Published in: Neurogenetics / Issue 1/2016
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-015-0465-x

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Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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