Molecular diagnosis of analbuminemia: a novel mutation identified in two Amerindian and two Turkish families

Clin Chem. 2002 Jun;48(6 Pt 1):844-9.


Background: Analbuminemia is a rare autosomal recessive disorder in which individuals have little or no circulating albumin, usually the most abundant plasma protein. We describe a new mutation associated with analbuminemia.

Methods: We studied four apparently unrelated patients who had congenital analbuminemia: two of Amerindian and two of Turkish origin. The 14 exons and the flanking intron sequences of the albumin gene were amplified by PCR and screened for mutations by single-strand conformational polymorphism and heteroduplex analysis. The mutated DNA fragments were sequenced directly.

Results: In all four cases, analbuminemia was caused by the same mutation, an AT deletion at nucleotides 2430-2431, the 91st and 92nd bases of exon 3. This novel defect, named Kayseri, produces a frameshift leading to a premature stop two codons downstream. The predicted translation product would consist of 54 amino acid residues.

Conclusions: The AT deletion at nucleotides 2430-2431 is a novel mutation associated with analbuminemia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Albumins / deficiency
  • Albumins / genetics*
  • Amino Acid Sequence
  • Female
  • Heteroduplex Analysis
  • Humans
  • Hypoproteinemia / diagnosis*
  • Hypoproteinemia / ethnology
  • Indians, North American / genetics
  • Infant
  • Infant, Newborn
  • Male
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Sequence Deletion
  • Turkey / ethnology


  • Albumins