Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies

Metabolism: Clinical and Experimental
Frederic ReinierLaura Crisponi

Abstract

Lipodystrophies are a large heterogeneous group of genetic or acquired disorders characterized by generalized or partial fat loss, usually associated with metabolic complications such as diabetes mellitus, hypertriglyceridemia and hepatic steatosis. Many efforts have been made in the last years in identifying the genetic etiologies of several lipodystrophy forms, although some remain to be elucidated. We report here the clinical description of a woman with a rare severe lipodystrophic and progeroid syndrome associated with hypertriglyceridemia and diabetes whose genetic bases have been clarified through whole-exome sequencing (WES) analysis. This article reports the 5th MDPL (Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome) patient with the same de novo p.S605del mutation in POLD1. We provided further genetic evidence that this is a disease-causing mutation along with a plausible molecular mechanism responsible for this recurring event. Moreover we overviewed the current classification of the inherited forms of lipodystrophy, along with their underlying molecular basis. Progress in the identification of lipodystrophy genes will help in better understanding the role of the pathways involved in the...Continue Reading

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Nov 6, 2018·DNA and Cell Biology·Chiara FiorilloGiuseppe Novelli
Jul 7, 2019·Life Science Alliance·Stanislaw K JozwiakowskiKerstin Gari
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Jun 10, 2021·The Application of Clinical Genetics·Fabio Coppedè
Sep 14, 2021·European Journal of Medical Genetics·Battisti GladysMaystadt Isabelle

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