Diagnostic Challenge in PLIN1-Associated Familial Partial Lipodystrophy

Isabelle Jéru, Marie-Christine Vantyghem, Elise Bismuth, Pascale Cervera, Sara Barraud, Martine Auclair, Camille Vatier, Olivier Lascols, David B Savage & Corinne Vigouroux
Abstract Context Heterozygous frameshift variants in PLIN1 encoding perilipin-1, a key protein for lipid droplet formation and triglyceride metabolism, have been implicated in familial partial lipodystrophy type 4 (FPLD4), a rare entity with only six families reported worldwide. The pathogenicity of other PLIN1 null variants identified in patients with diabetes and/or hyperinsulinemia was recently questioned because of the absence of lipodystrophy in these individuals and the elevated frequency of PLIN1 null variants in the general...
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