Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

L. Van Maldergem, J. Magré, T. E. Khallouf, T. Gedde-Dahl, M. Delépine, O. Trygstad, E. Seemanova, T. Stephenson, C. S. Albott, F. Bonnici, V. R. Panz, J. L. Medina, P. Bogalho, F. Huet, S. Savasta, A. Verloes, J. J. Robert, H. Loret, M. De Kerdanet, N. Tubiana-RufiA. Mégarbané, J. Maassen, M. Polak, D. Lacombe, C. R. Kahn, E. L. Silveira, F. H. D'Abronzo, F. Grigorescu, M. Lathrop, J. Capeau, S. O'Rahilly

Research output: Contribution to journalArticle

Abstract

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 the genotype/phenotype relationships in 70 affected subjects from 44 apparently unrelated pedigrees of diverse ethnic origin. In all subjects, hepatic dysfunction, hyperlipidaemia, diabetes mellitus, and hypertrophic cardiomyopathy were significant contributors to morbidity with no clear differences in their prevalence between subjects with BSCL1 or BSCL2 and those with evidence against cosegregation with either chromosome 9 or 11 (designated BSCLX). BSCL2 appears to be a more severe disorder than BSCL1 with a higher incidence of premature death and a lower prevalence of partial and/or delayed onset of lipodystrophy. Notably, subjects with BSCL2 had a significantly higher prevalence of intellectual impairment than those with BSCL1 or BSCLX (p

Original languageEnglish
Pages (from-to)722-733
Number of pages12
JournalJournal of Medical Genetics
Volume39
Issue number10
Publication statusPublished - Oct 1 2002

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Van Maldergem, L., Magré, J., Khallouf, T. E., Gedde-Dahl, T., Delépine, M., Trygstad, O., Seemanova, E., Stephenson, T., Albott, C. S., Bonnici, F., Panz, V. R., Medina, J. L., Bogalho, P., Huet, F., Savasta, S., Verloes, A., Robert, J. J., Loret, H., De Kerdanet, M., ... O'Rahilly, S. (2002). Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. Journal of Medical Genetics, 39(10), 722-733.