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; Lorenzo Maggi; Marina Mora; Lucia Morandi; Cinzia Bragato; Sara Missaglia

doi:10.1016/j.gendis.2019.07.006

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

更新时间：2022-06-24

- A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy
- Genes & Diseases Vol. 8, Issue 1, (2021)
- 作者机构：
  
  1. Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Università Cattolica del Sacro Cuore, pz Buonarroti 30, Milan,Italy,20145
  2. Department of Psychology, Università Cattolica del Sacro Cuore, Largo Gemelli 1, Milan,Italy,20123
  3. Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico “Carlo Besta”, Milan,Italy
  4. PhD program in Neuroscience, University of Milano-Bicocca, Via Cadore 48, Monza,Italy,20900
- 作者简介：
- 基金信息：
- DOI：10.1016/j.gendis.2019.07.006
  CLC：
- Published：2021，
  
  Published Online：1 January 2021，
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Daniela Tavian, Lorenzo Maggi, Marina Mora, et al. A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy. [J]. Genes & Diseases 8(1).(2021)
DOI：

Daniela Tavian, Lorenzo Maggi, Marina Mora, et al. A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy. [J]. Genes & Diseases 8(1).(2021) DOI： 10.1016/j.gendis.2019.07.006.

摘要

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.

关键词

Keywords

CardiomyopathyLipid metabolismNeutral lipid storage disease with myopathyPNPLA2Splicing mutationTriglyceride lipase

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