Your browser doesn't support javascript.
Show: 20 | 50 | 100
Results 1 - 2 de 2
Add filters

Year range
Article in Chinese | WPRIM | ID: wpr-911365


Objective:To investigate the clinical and genetic features in a family with type 2 congenital generalized lipodystrophy, and to improve the understanging of this disease.Methods:The clinical symptoms, results of the laboratory, and radiography examinations of the patient and his family members were analyzed. The whole exome sequencing and Sanger validation were used to determine the genetic cause of the disease.Results:Generalized lipodystrophy, impaired liver function, severe hypertriglyceridemia, and acanthosis nigricans were found in the proband. His serum leptin level was much lower than normal value. The proband and three members of this family were confirmed to have insertion mutation at exon 5 of BSCL2 gene. The site was mutated from TTC to TCGGTC, resulting in the replacement of glutamate by aspartate and arginine. The mutation in proband was homozygote, and his father, mother, and brother were heterozygous.Conclusions:The mutation in exon 5 c. 545_546insCCG of BSCL2 gene leads to the occurrence of type 2 congenital generalized lipodystrophy.

Article in Chinese | WPRIM | ID: wpr-588985


This article introduces the principle and the structure of streamline testing based on the newly developed laboratory automation system in our hospital.An overview of the functions and the technical structure of each module within streamline testing are provided.The streamline procedure and the information transmission between modules are also briefly described.