Fanconi anemia causes
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Fanconi anemia an autosomal recessive genetic disorder..
Causes
There are at least 13 genes of which mutations are known to cause FA.
Common Genes
FANCA
FANCB,
FANCC
FANCD1 (BRCA2)
FANCD2,
FANCE,
FANCF
FANCG
Less common
FANCI
FANCJ (BRIP1)
FANCL
FANCM
FANCN (PALB2)
FANCP (SLX4)
FANCS (BRCA1)
RAD51C
XPF.
Mechanism
For an autosomal recessive disorder, both parents must be carriers in order for a child to inherit the condition. If both parents are carriers, there is a 25% risk with each pregnancy for the mother to have an affected child. Approximately 1,000 persons worldwide presently suffer from the disease. The carrier frequency in the Ashkenazi Jewish population is about 1/90. Genetic counseling and genetic testing is recommended for families that may be carriers of Fanconi anemia.File:Autorecessive.svg
