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Updated: Jun 3, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
Published on: August 24, 2013
[Genetic and metabolic description of five patients with Berardinelli-Seip syndrome]
Cristiane B Barra1, Roberta D Savoldelli, Thais D Manna
1Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil. crisbbarra@uol.com.br
Objective:
To report the genetic and metabolic profile of patients with Berardinelli-Seip syndrome (BSCL) followed at Instituto da Criança, HC-FMUSP.
Subjects And 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.
Conclusion:
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.
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