Chanarin Dorfman Syndrome(CDS;MIM:275630)is a rare autosomal recessive disorder,characterized by triacylglycerol(TG)accumulation in lipid droplets(LDs)within different tissues including skin,liver,skeletal muscle,bone...Chanarin Dorfman Syndrome(CDS;MIM:275630)is a rare autosomal recessive disorder,characterized by triacylglycerol(TG)accumulation in lipid droplets(LDs)within different tissues including skin,liver,skeletal muscle,bone marrow,eyes,ears,and central nervous system.1 In CDS,the prevalent and always observed clinical feature is a non-bullous congenital ichthyosiform erythroderma(NCIE).展开更多
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 hep...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.187t1G>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.展开更多
基金The publication of this article was supported by Universita Cattolica del Sacro Cuore(Milan,Italy).
文摘Chanarin Dorfman Syndrome(CDS;MIM:275630)is a rare autosomal recessive disorder,characterized by triacylglycerol(TG)accumulation in lipid droplets(LDs)within different tissues including skin,liver,skeletal muscle,bone marrow,eyes,ears,and central nervous system.1 In CDS,the prevalent and always observed clinical feature is a non-bullous congenital ichthyosiform erythroderma(NCIE).
基金grant GGP14066 from Telethon Foundationthe patient for their kind cooperation,to the EuroBioBank and the Telethon Network of Genetic Biobanks(GTB12001F)for providing biological samples and to professor Francesco Mauri for his scientific assistance。
文摘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.187t1G>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.
