Skip to main content

Table 3 Clinical-genetic correlation in NLSD-M patients

From: Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

Family Patient Age at onset Sex and age DNA mutations in PNPLA2 gene Protein mutation Mutation effect Clinical severity
Family I I.1 25y F, 69y c.24G > C PT Probably no protein production Severe
     c.516C > A MM Conserve localization and partially lipase function  
  I.2 40y M, 62y c.24G > C PT   Moderate
     c.516C > A MM   
Family II II.1 47y F, 74y c.24G > C PT   Severe
     c.516C > A MM   
Family III III.1 34y M, 50y c.542delCA TM Loss of hydrophobic domain Severe
     c.542delCA TM   
  III.2 35y M, 45y c.542delCA TM   Severe
     c.542delCA TM   
Family IV IV.1 58y F, 74y c.497A > G MM Totally loss of lipase function Mild
     c.1442C > T MM Partially loss of lipase function  
Family V V.1 52y F, 52y c.659delT D Loss of hydrophobic domain and localization Severe
     c.659delT D   
Family VI VI.1 1y M, 26y c.41-47del D Probably no protein production Moderate
     c.41-47del D   
Family VII VII.1 40y F, 53y c.553-565del D Loss of hydrophobic domain Moderate
     c.696 + 4 > G SSM Loss of lipase function  
Family VIII VIII.1 40y M, 60y c.177 T > G MM Partially loss of lipase function Moderate
     c.577A > T MM Partially loss of lipase function  
  VIII.2 35y M, 50y c.177 T > G MM   Mild
     c.577A > T MM   
  VIII.3 58y F, 58y c.177 T > G MM   Mild
     c.577A > T MM   
Family IX IX.1 64y M, 79y c.570A > C MM Affect central domain Mild
     c.570A > C MM   
Family X X.1 45y M, 47y c.714C > A MM Unknown Mild
     c.714C > A MM   
Family XI XI.1 5y M, 14y c.865C > T MM Partially loss of lipase function Asymptomatic
     c.424A > T PT Loss of hydrophobic domain  
  1. LEGEND: PT protein truncation, MM Missense mutation, TM truncated mutation, D Deletion, DT transcription defect, SSM splice site mutation. Severe: loss of ambulation, use of wheelchair; Moderate: interference with daily activity; Mild: symptomatic but not interference with daily activity; Asymptomatic: hyperCKemia without symptoms