Searchable abstracts of presentations at key conferences in endocrinology

ea0034p135 | Clinical practice/governance and case reports | SFEBES2014

Next generation sequencing approach for molecular genetic diagnosis of familial partial lipodystrophy

Thomas Nihal , Asha H S , Chapla Aaron , Manika V , Shetty Shrinath

Background: Familial partial lipodystrophy type 2 (FPLD2) is an autosomal dominant inherited form of lipodystrophy due to mutation in the LMNA gene on chromosome 1q22. It is characterized by selective loss of subcutaneous adipose tissue from the limbs and trunk, with accumulation of fat in the neck and face, insulin resistance, diabetes mellitus and dyslipidemia.Objective: To study the clinical features and establish the molecular diagnosis of two subjec...