Authors: E. Seemanová Authors‘ workplace: Oddělení klinické genetiky Ústavu biologie a lékařské genetiky 2. LF UK, FN v Motole, Praha, vedoucí MUDr. M. Havlovicová Published in: Čes-slov Pediat 2002; (6): 296-298. Category:
Berardinelli-Seip syndrome is an autosomal recessive syndrome due to a defect of insulin receptors.Deficientinsulin binding to insulin receptors leads to insulin resistance with hyperinsulinism,hyperglycaemia and non-ke-tonaemic diabetes mellitus.The defect of lipid metabolism is manifested by lipodystrophy,premature ageing andhepatopathy.The clinical prognosis of the patient as well as the genetic prognosis of reproduction of his parentsare unsatisfactory.Two genes responsible for this trait BSCL1 on 9q34 and BSCL2 on 11q13 were detected recently.There is genetic heterogeneity,the other genes were not yet mapped and therefore effective prevention is availableonly to some families at risk.
Key words: Berardinelli-Seip syndrome,autosomal recessive inheritance,insulin resistance,mutation in genesBSCL1 on 9q34 and BSCL2 in region 11q13 or others,genetic heterogeneity
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