Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.

  title={Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.},
  author={Lionel Van Maldergem and Jocelyne Magr{\'e} and T E Khallouf and Tobias Gedde-Dahl and Marc D{\'e}l{\'e}pine and Olav Trygstad and Eva Seemanov{\'a} and Terrence Stephenson and C S Albott and François Bonnici and Vanessa R. Panz and Jos{\'e} Luis Vilchis Medina and P Bogalho and Fr{\'e}d{\'e}ric Huet and Salvatore Savasta and Alain Verloes and J. J. Robert and H Loret and Marc de Kerdanet and Nadia Tubiana-Rufi and Andr{\'e} M{\'e}garban{\'e} and J Maassen and Michel Polak and D Lacombe and C Ronald Kahn and Elizabeth Lemos Silveira and Francisco Homero D'Abronzo and Florin Grigorescu and Mark Lathrop and Jaqueline Capeau and Stephan O'Rahilly},
  journal={Journal of medical genetics},
  volume={39 10},
Generalised lipodystrophy of the Berardinelli-Seip type (BSCL) is a rare autosomal recessive human disorder with severe adverse metabolic consequences. A gene on chromosome 9 (BSCL1) has recently been identified, predominantly in African-American families. More recently, mutations in a previously undescribed gene of unknown function (BSCL2) on chromosome 11, termed seipin, have been found to be responsible for this disorder in a number of European and Middle Eastern families. We have studied… CONTINUE READING