Molecular Genetics of Analbuminaemia

Research output: Research - peer-reviewJournal article

  • Lorenzo Minchiotti
    Lorenzo MinchiottiUniversity of PaviaItaly
  • Gianluca Caridi
    Gianluca CaridiIstituto Giannina Gaslini IRCCS, GenoaItaly
  • Monica Campagnoli
    Monica CampagnoliUniversity of PaviaItaly
  • Monica Galliano
    Monica GallianoUniversity of PaviaItaly
  • Ulrich Kragh-Hansen
  • Theodore Peters
    Theodore PetersBassett Healthcare, Research Institute, Cooperstown, NYUnited States
Congenital analbuminaemia (CAA) is a very rare condition manifested by the near complete absence of albumin, the major blood protein, because of defects in the albumin (ALB) gene. It is generally regarded as relatively benign in adults, but analbuminaemic individuals may be at risk during the perinatal and childhood period. Twenty-one different molecular lesions in the ALB are now known as cause of the trait. These include one mutation in the start codon, one frameshift/insertion, five frameshift/deletions, seven nonsense mutations and seven mutations affecting splicing. Thus, nonsense mutations, mutations affecting splicing and frameshift/deletions seem to be the most common causes of CAA. These results indicate that the trait is an allelic heterogeneous disorder caused by homozygous or, in a single case, compound heterozygous inheritance of defects. Most mutations are unique, but one, named Kayseri, is responsible for about half of the known cases.
Original languageEnglish
JournalEncyclopedia of Life Sciences
Number of pages9
DOIs
StatePublished - 2014

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