Clinical and genetic study of lipodystrophic syndrome caused by LMNA mutation

Abstract

Objective To explore the underlying pathogenic mechanism of lipodystrophic syndrome by analyzing the clinical manifestation and genetic information of a patient with lipodystrophy. Methods Clinical and laboratory data of a patient with lipodystrophy admitted to Peking Union Medical College Hospital in December 2015 were investigated. The quantification of adipose tissue was achieved by diffuse weight imaging. The levels of leptin and adiponectin were determined. Gene mutations related to congenital lipodystrophy were tested by Sanger sequencing. Results Diffuse weight imaging showed atrophy of subcutaneous adipose tissue in multiple sites of the body. The levels of leptin and adiponectin were 0 and 3 mg/L respectively. Sanger sequencing result elicited LMNA mutation with c.1045C>T(p.349R> W). Conclusions The patient presents with classic lipodystrophic manifestation, including characteristic lipoatrophic appearance, insulin resistance and disorder of lipid metabolism and extremely low levels of leptin and adiponectin. The LMNA mutation and the low levels of leptin and adiponectin may contribute to the pathogenesis of lipodystrophic syndrome. Key words: Lipodystrophic syndrome; Adipocytokine; LMNA mutation