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Genetics

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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