# Inherited Lipodystrophy Associated With POLD1 and CAVIN1 Mutations: Two Cases From the Indian Subcontinent

## TL;DR

This paper reports two rare inherited lipodystrophy cases in the Indian subcontinent, linked to POLD1 and CAVIN1 mutations, diagnosed through whole-exome sequencing.

## Contribution

The study presents two novel clinical cases of inherited lipodystrophy with confirmed genetic mutations from the Indian subcontinent.

## Key findings

- MDPL syndrome was diagnosed with POLD1 mutations in a patient with delayed puberty and young-onset diabetes.
- CGL4 was identified with CAVIN1 mutations in a patient with delayed puberty and achalasia cardia.
- Whole-exome sequencing confirmed the molecular diagnosis in both cases.

## Abstract

Lipodystrophies comprise a large, heterogeneous group of disorders characterized by generalized or partial fat loss, accompanied by metabolic complications, including insulin resistance, which may or may not be associated with diabetes. Inherited lipodystrophies are a rare subgroup of lipodystrophies characterized by diverse systemic manifestations, posing a diagnostic and therapeutic challenge to clinicians. Here, we report two rare cases of lipodystrophy syndromes: mandibular dysplasia with deafness, progeroid features, and lipodystrophy (MDPL) (Online Mendelian Inheritance in Man (OMIM) #615381) and congenital generalized lipodystrophy type 4 (CGL4) (OMIM #613327). The presenting complaints were delayed puberty and young-onset diabetes in the former case and delayed puberty and achalasia cardia in the latter case. The molecular diagnosis was confirmed by whole-exome sequencing.