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Disease Report for: Lipodystrophy, familial partial, type 6

Name Class
Lipodystrophy, familial partial, type 6Gene_locushuman-LIPE
Alternative_name (5)
Comment(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
OMIM615980
151750
MutationV767GfsX_human-LIPE
A507fsX_human-LIPE
E1035X_human-LIPE
Paper (8)

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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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