Biologie moléculaire : accès libre

A Novel Variation in the BSCL-2 Gene in Congenital Lipodystrophy

Abstract

R. Turner, J. Polanco, M. Pietruszka, S. Tayefeh, Y. Valles-Ayoub, and M. Robinson

Lipodystrophy is a disorder of fat distribution and storage in the body and results in a generalized or regional selective loss of subcutaneous fat [1]; it may be acquired or congenital. Various syndromes have been described based on age of onset, body fat loss distribution, and associated comorbidities [1]. Attempts have been made to further characterize differences based on genetic testing. We describe a 33-year-old female patient who was referred for endocrine evaluation and in whom results from genetic testing of the BSCL gene showed 2 intronic homozygous variations that may be associated with congenital generalized lipodystrophy type 2 or, Berardinelli-Seip syndrome. This syndrome is a rare autosomal recessive disorderease characterized by a generalized lack of adipose tissue [1].  Results of genetic testing suggests a not previously described variation of type 2 lipodystrophy associated with atypical phenotypicalysical features and clinical course. The homozygous intronic variations present on intron 5 is NM_001122955.3 c.765+69A>G rs2850596 and the novel variant (c.766-49 T>C).