Fanconi Anemia, Complementation Group C

Alternative Names

  • FANCC
  • FACC
  • FAC
  • Fanconi Pancytopenia, Type 3
  • FA3
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WHO-ICD-10 version:2010

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Aplastic and other anaemias

OMIM Number

227645

Mode of Inheritance

Autosomal recessive with at least two loci and multiple alleles

Gene Map Locus

9q22.32

Description

Fanconi anemia (FA) is an autosomal recessive DNA instability syndrome that displays both clinical and genetic heterogeneity. Fanconi anemia includes at least five complementation groups, as defined by cell fusion experiments. The Fanconi anemia group C (FANCC) gene, which is associated with complementation group C (FA-C), maps to chromosome 9q22.32 and was the first Fanconi anemia gene to be cloned.

Epidemiology in the Arab World

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Other Reports

Iraq

Verlander et al. (1995) developed amplification refractory mutation system (ARMS) assays for 5 known mutations in FAC and used these assays to determine the carrier frequency of the IVS4 +4 A-to-T mutation in an Ashkenazi Jewish population. Among 3,104 Jewish individuals, primarily of Ashkenazi descent, 35 IVS4 carriers were identified, for a carrier frequency of 1 in 89 (1.1%). Among 563 Iraqi Jews, no carriers of the IVS4 mutation were found. Verlander et al. (1995) suggested that the lack of the IVS4 mutation in the Iraqi Jewish population could be because the mutation originated in the Ashkenazi population after its separation from other Jewish populations.

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