Congenital analbuminemia caused by a novel aberrant splicing in the albumin gene

Caridi G., Dagnino M., ERDEVE Ö., Di Duca M., Yildiz D., Alan S., ...More

BIOCHEMIA MEDICA, vol.24, no.1, pp.151-158, 2014 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 24 Issue: 1
  • Publication Date: 2014
  • Doi Number: 10.11613/bm.2014.017
  • Journal Name: BIOCHEMIA MEDICA
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.151-158
  • Keywords: human serum albumin, albumin gene, congenital analbuminemia, DNA and cDNA sequence analysis, splicing mutation, MUTATION CAUSES, DIAGNOSIS, SITE
  • Ankara University Affiliated: Yes

Abstract

Introduction: Congenital analbuminemia is a rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin. It is an allelic heterogeneous defect, caused by variety of mutations within the albumin gene in homozygous or compound heterozygous state. Herein we report the clinical and molecular characterization of a new case of congenital analbuminemia diagnosed in a female newborn of consanguineous (first degree cousins) parents from Ankara, Turkey, who presented with a low albumin concentration (< 8 g/L) and severe clinical symptoms.