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Disease Report for: Lipodystrophy, familial partial, type 6

Alternative name(s)|FPLD6
Lipodystrophy, familial partial, associated with LIPE mutations
LIPE-related lipodystrophic syndrome
LIPE-related Multiple Symmetric Lipomatosis (MSL)
LIPE-related Launois-Bensaude Lipomatosis or Madelung disease
Mutation|3 mutations: A507fsX_human-LIPE, E1035X_human-LIPE, V767GfsX_human-LIPE
OMIM: |615980, 151750

(from OMIM) Albert et al. (2014) sequenced 12 lipolytic-pathway genes in 24 Old Order Amish individuals whose fasting serum triglyceride levels were at the extremes of the distribution, and detected a 19-bp deletion in the LIPE gene in an individual whose triglyceride level was at the upper extreme. Genotyping for the LIPE deletion in 2,738 participants in the Amish Complex Disease Research Program identified 1 individual who was homozygous for the deletion ('DD' genotype) and 140 heterozygotes. Homozygous individuals exhibited impaired lipolysis and showed evidence for redistribution of body fat as well as altered metabolic traits, including systemic insulin resistance and diabetes. Carriers of the deletion had an increased risk of metabolic dysfunction. In an Italian sister and brother from a consanguineous family with a late-onset form of partial lipodystrophy, originally reported by Carboni et al. (2014), Farhan et al. (2014) performed genomewide autozygosity mapping and whole-exome sequencing, and identified a frameshift mutation in the LIPE gene that segregated with disease in the family. Sollier et al. (2021) describe four novel mutations in three patients and model the disease using stem cells

    Title: A Missense Variant Arg611Cys in LIPE which Encodes Hormone Sensitive Lipase Decreases Lipolysis and Increases Risk of Type 2 Diabetes in American Indians
    Muller YL, Sutherland J, Nair AK, Koroglu C, Kobes S, Knowler WC, Van Hout CV, Shuldiner AR, Hanson RL and Baier LJ <1 more author(s)>
    Ref: Diabetes Metab Res Rev, :e3504, 2021 : PubMed


    Title: LIPE-related lipodystrophic syndrome: clinical characteristics and disease modelling using adipose stem cells
    Sollier C, Capel E, Aguilhon C, Smirnov V, Auclair M, Douillard C, Ladsous M, Defoort-Dhellemmes S, Gorwood J and Jeru I <6 more author(s)>
    Ref: European Journal of Endocrinology, 184:155, 2021 : PubMed


    Title: Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy
    Zolotov S, Xing C, Mahamid R, Shalata A, Sheikh-Ahmad M, Garg A
    Ref: American Journal of Medicine Genet A, 173:190, 2017 : PubMed


    Title: Null mutation in hormone-sensitive lipase gene and risk of type 2 diabetes
    Albert JS, Yerges-Armstrong LM, Horenstein RB, Pollin TI, Sreenivasan UT, Chai S, Blaner WS, Snitker S, O'Connell JR and Damcott CM <6 more author(s)>
    Ref: N Engl J Med, 370:2307, 2014 : PubMed


    Title: Partial lipodystrophy associated with muscular dystrophy of unknown genetic origin
    Carboni N, Brancati F, Cocco E, Solla E, D'Apice MR, Mateddu A, McIntyre A, Fadda E, Mura M and Hegele RA <6 more author(s)>
    Ref: Muscle & Nerve, 49:928, 2014 : PubMed


    Title: A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy
    Farhan SM, Robinson JF, McIntyre AD, Marrosu MG, Ticca AF, Loddo S, Carboni N, Brancati F, Hegele RA
    Ref: Can J Cardiol, 30:1649, 2014 : PubMed


    Title: Whole genome sequencing of Ethiopian highlanders reveals conserved hypoxia tolerance genes
    Udpa N, Ronen R, Zhou D, Liang J, Stobdan T, Appenzeller O, Yin Y, Du Y, Guo L and Haddad GG <17 more author(s)>
    Ref: Genome Biol, 15:R36, 2014 : PubMed


    Title: Hormone-sensitive lipase deficiency in humans
    Zechner R, Langin D
    Ref: Cell Metab, 20:199, 2014 : PubMed


Send your questions or comments to :
Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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