Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing

Table 1

Fanconi anemia complementation groups, genes, and proteins.

Group	Gene symbol(s)^a	Cytogenetic location	Protein (amino acids)	Domain structure (references)
A	FANCA	16q24.3	1455	HEAT repeats [8]
B	FANCB	Xp22.31	859	—
C	FANCC	9q22.3	558	HEAT repeats [8]
D1 ^b	BRCA2	13q12.3	3418	RAD51- and DNA-binding motifs [9]
D2	FANCD2	3p25.3	1451	—
E	FANCE	6p21.3	536	—
F	FANCF	11p15	374	—
G	FANCG	9p13	622	Tetratricopeptide repeats (TPR) [10]
I	FANCI	15q26.1	1328	—
J ^b	BRIP1	17q22	1249	DNA helicase [11, 12]
L	FANCL	2p16.1	375	RING finger motif (E3 ligase) [7, 8]
M	FANCM	14q21.3	2014	DNA helicase, nuclease [13]
N ^b	PALB2	16p12.1	1186	—
O ^b	RAD51C	17q25.1	376	—
P ^b	SLX4	16p13.3	1834	Endonuclease scaffold [3, 4]

^aFor gene nomenclature see http://www.genenames.org/.
^bThe proteins defective in groups D1, J, N, O, and P (boldface) act downstream or independent of the monoubiquitination of FANCD2; all other FA proteins act upstream of this process.