4.2 Review

Genetics of lipodystrophy syndromes

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Summary: Biallelic LIPE null variants were identified in three unrelated patients with Multiple Symmetric Lipomatosis (MSL) and/or partial lipodystrophy, leading to a multisystemic disease with various metabolic and neurological complications. Loss of HSL expression impairs adipocyte differentiation, consistent with the lipodystrophy/MSL phenotype and associated metabolic complications, indicating the importance of detailed ophthalmological examination for retinal damage in these patients.

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A Novel LIPE Nonsense Mutation Found Using Exome Sequencing in Siblings With Late-Onset Familial Partial Lipodystrophy

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PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy

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Mutations in PIK3R1 Cause SHORT Syndrome

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A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans

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Perilipin Deficiency and Autosomal Dominant Partial Lipodystrophy

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Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome

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The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology

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Medical progress - Acquired and inherited lipodystrophies

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A family with severe insulin resistance and diabetes due to a mutation in AKT2

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Lamin A truncation in Hutchinson-Gilford progeria

A De Sandre-Giovannoli et al.

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PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy

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Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

G Novelli et al.

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AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34

AK Agarwal et al.

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LMNA, encoding lamin A/C, is mutated in partial lipodystrophy

S Shackleton et al.

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Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy

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