title: [Genetic and metabolic description of five patients with Berardinelli-Seip syndrome].
abstract: OBJECTIVE
  To report the genetic and metabolic profile of patients with Berardinelli-Seip syndrome (BSCL) followed at Instituto da Criança, HC-FMUSP.
  
  
  METHODS
  Patients with clinical features of BSCL (n = 5), all female, were evaluated through serum levels of glucose, insulin, lipids, leptin, and liver enzymes. Abdominal sonography and DNA analysis were also performed.
  
  
  RESULTS
  Leptin deficiency and hypertriglyceridemia were found in all the patients. Three progressed to diabetes mellitus. Four patients have mutations in AGPAT2 gene and one have a mutation in CAV1 gene.
  
  
  CONCLUSIONS
  The earliest metabolic abnormalities were hypertriglyceridemia and insulin resistance, culminating in the onset of diabetes at the time of puberty. Mutations in the AGPAT2 gene were the most frequent in our patients.
authors.affiliation: Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil. crisbbarra@uol.com.br
authors.forename: Cristiane B
authors.initials: CB
authors.lastname: Barra
authors.forename: Roberta D
authors.initials: RD
authors.lastname: Savoldelli
authors.forename: Thais D
authors.initials: TD
authors.lastname: Manna
authors.forename: Chong A
authors.initials: CA
authors.lastname: Kim
authors.forename: Jocelyn
authors.initials: J
authors.lastname: Magre
authors.forename: Gilda
authors.initials: G
authors.lastname: Porta
authors.forename: Nuvarte
authors.initials: N
authors.lastname: Setian
authors.forename: Durval
authors.initials: D
authors.lastname: Damiani
mesh_terms: D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase / Q000235:genetics; D000293:Adolescent; D051242:Caveolin 1 / Q000235:genetics; D002648:Child; D003920:Diabetes Mellitus / Q000209:etiology; D005260:Female; D006801:Humans; D015228:Hypertriglyceridemia / Q000175:diagnosis / Q000473:pathology; D020738:Leptin / Q000097:blood / Q000172:deficiency; D052497:Lipodystrophy, Congenital Generalized / Q000150:complications / Q000235:genetics* / Q000378:metabolism*; D009154:Mutation / Q000235:genetics; D011627:Puberty / Q000502:physiology; D055815:Young Adult
chemical_list: C495540:CAV1 protein, human; D051242:Caveolin 1; D020738:Leptin; D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase