Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biochemistry Laboratory, |
RCV001420182 | SCV001573895 | pathogenic | Analbuminemia | no assertion criteria provided | research | Herein we report the clinical and molecular characterization of a new case of congenital analbuminemia diagnosed in Tunisian patient, who presented with a low albumin concentration (4 g/L) detected by by immunonephelometry. Automated capillary electrophoresis of serum proteins confirmed the presence of a similarly low albumin concentration ( 5 g/L). The patient was hospitalized for cardiac complications associated with dyslipidemia. The albumin gene of the index case was screened by DNA sequencing and the results revealed a novel 3'UTR mutation. |