Case Report: Concurrent de novo pathogenic variants in the LMNA gene as a cause of sporadic partial lipodystrophy.

ABSTRACT:

Introduction

Inherited lipodystrophies are a group of rare diseases defined by severe reduction in adipose tissue mass and classified as generalized or partial. We report a non-familial (sporadic) case of partial lipodystrophy caused by a novel genetic mechanism involving closely linked de novo pathogenic variants in the LMNA gene.

Methods

A female adult with partial lipodystrophy and her parents were evaluated for gene variants across the exome under different mendelian inheritance models (autosomal dominant, recessive, compound heterozygous, and X-linked) to find pathogenic variants. Body composition was assessed via dual-energy X-ray absorptiometry (DXA).

Results

The patient showed absence of adipose tissue in the limbs; preservation of adiposity in t

SUBMITTER: Santos JL 

PROVIDER: S-EPMC11634843 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature