Molecular Biology: Open Access

Ultimate DX, USA

Publications

• Research   
  A Novel Variation in the BSCL-2 Gene in Congenital Lipodystrophy
  Author(s): 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 lipodystrop.. Read More»
  DOI: 10.37421/2168-9547.21.10.283

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