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., ...Daha Fazla

BIOCHEMIA MEDICA, cilt.24, sa.1, ss.151-158, 2014 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 24 Sayı: 1
  • Basım Tarihi: 2014
  • Doi Numarası: 10.11613/bm.2014.017
  • Dergi Adı: BIOCHEMIA MEDICA
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.151-158
  • Anahtar Kelimeler: human serum albumin, albumin gene, congenital analbuminemia, DNA and cDNA sequence analysis, splicing mutation, MUTATION CAUSES, DIAGNOSIS, SITE
  • Ankara Üniversitesi Adresli: Evet

Özet

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.