Congenital deficiency of alpha feto-protein

Reuven Sharony, Idit Zadik, Ruti Parvari

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


Alpha-fetoprotein (AFP) is the main fetus serum glycoprotein with a very low concentration in the adult. AFP deficiency is a rare phenomenon. We studied two families with congenital AFP deficiency and searched for mutations in the AFP gene. We identified one mutation of 2 base deletion in exon 8, in both families, that leads to the congenital deficiency of AFP. The mutation nt930-931delCT (T294fs25X) creates a frameshift after codon 294 that leads to a stop codon after 24 amino acids, thus truncating the normal length of AFP of 609 amino acids. All the affected children were found to be homozygous for the mutation as was one of the fathers. The affected individuals were asymptomatic and presented normal development. This first identification of a mutation in the AFP gene demonstrates for the first time that deficiency of AFP is compatible with human normal fetal development and further reproduction in males.

Original languageEnglish
Pages (from-to)871-874
Number of pages4
JournalEuropean Journal of Human Genetics
Issue number10
StatePublished - 1 Oct 2004


  • Deficiency of Alpha-fetoprotein
  • Frameshift mutation
  • Normal development

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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