Clinical and Molecular Investigation of Familial Multiple Lipomatosis: Variants in the HMGA2 Gene.

ABSTRACT:

Background

Familial multiple lipomatosis (FML) is an autosomal dominant disorder characterized by the slow growth of encapsulated nodules spread across the trunk and limbs. Currently, there is no specific etiology; therefore, its molecular and biological bases need to be better understood. High-throughput sequencing technologies appear to be a cost-effective tool and have a pivotal role in elucidating different genodermatoses.

Objective

This study aimed to perform a clinical and molecular characterization of constitutional DNA of seven individuals belonging to five unrelated families diagnosed with FML.

Patients and methods

Clinical aspects were obtained from medical records and physical examination. HMGA2 gene was investigated using Sanger sequencing method. M

SUBMITTER: Mejia Granados DM 

PROVIDER: S-EPMC6956394 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature