Berardinelli-Seip syndrome in a Chinese boy with Seipin gene mutation: a case study and literature review of genotype-phenotype

Objective Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare and heterogeneous disease of autosomal recessive inheritance characterized by the generalized absence of adipose tissue at birth and severe adverse metabolic consequences. The identified causative genes for CGL include 1-acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2), Berardinelli-Seip congenital lipodystrophy 2 (BSCL2 or Seipin), Caveolin-1 (CAV1) and polymerase I and transcript release factor (PTRF). Although more than 60 cases of CGL with different gene mutations have been found in Asian patients, only 7 patients were Chinese. Data are also limited regarding genotype-phenotype analysis in Asian CGL patients. Therefore, we aimed to analyze variations of two identified major causative genes, Seipin and AGPAT2, involved in CGL etiology in a mainland Chinese affected family and explore the genotype-phenotype of Berardinelli-Seip syndrome in Asian populations.