A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy

Daniela Tavian, Sara Missaglia, Lorenzo Maggi, Marina Mora, L. Morandi, Cinzia Bragato

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1 Citazioni (Scopus)

Abstract

Neutral lipid storage disease with myopathy (NLSDM) is a rare autosomal recessive disorder, due to an enzymatic error of lipid metabolism. Patients present always with skeletal muscle myopathy and variable cardiac and hepatic involvement. NLSDM is caused by mutations in the PNPLA2 gene, which encodes the adipose triglyceride lipase (ATGL). Here we report the molecular characterization and clinical findings of two NLSDM siblings carrying the novel c.187+1G > C homozygous PNPLA2 mutation, localized in the splice site of intron 2. Molecular analyses revealed that neither aberrant PNPLA2 mRNA isoforms, nor ATGL mutated protein were detectable in patient's cells. Clinically, both patients presented early onset muscle weakness, in particular of proximal upper limb muscles. In almost 15 years, muscle damage affected also distal upper limbs. This is a NLSDM family, displaying a severe PNPLA2 mutation in two siblings with clinical presentation characterized by an early onset, but a slowly evolution of severe myopathy.
Lingua originaleEnglish
pagine (da-a)73-78
Numero di pagine6
RivistaGENES & DISEASES
DOI
Stato di pubblicazionePubblicato - 2019

Keywords

  • Cardiomyopathy
  • Lipid metabolism
  • Neutral lipid storage disease with myopathy
  • PNPLA2
  • Splicing mutation
  • Triglyceride lipase

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