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Genetics

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

The mode of inheritance is autosomal recessive.

Somatic cell fusion analyses led to FA (Fanconi's anaemia) cases being assigned into eight distinct complementation groups, FA-A, FA-B, FA-C, FA-D1, FA-D2, FA-E, FA-F, and FA-G.

FA-A is the most common FA subtype in most populations, accounting for approximately 65% of cases; FA-C and FA-G each account for approximately 10-15% of cases, with the remaining subtypes being rare

FA group

Gene

Estimated proportion FA patients

Chromosomal location

FA-A

FANCA

66%

16q24.3

FA-B

poss BRCA2

<1%

FA-C

FANCC

12%

9q22.3

FA-D1

BRCA2

<1%

13q12

FA-D2

FANCD2

<1%

3p25.3

FA-E

FANCE

4%

6p21.3

FA-F

FANCF

4%

11p15

FA-G

FANCG/XRCC9

12%

9p13

 

Reference:

  • Joenje H., Patel K. J. The emerging genetic and molecular basis of Fanconi Anemia. Nat. Rev. Genet., 2: 447-457, 2001.
  • Tischkowitz M., Hodgson S. V. Fanconi Anemia. J. Med. Genet., 40: 1-10, 2003.

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