Table 1.

Features of DNA samples included in the study

DNA sample ID	Gender	DNA sample sourcea	FANC genes analyzed by Sanger sequencing	Mutant gene	Mutations identified by Sanger sequencingb	Mutations identified by Ion PGMTM b	Reference
W1	M	PBC	A, G	Wild type	None	None	This paper
W2	F	PBC	A, C, G	Wild type	None	[c.50C>G, p.(Pro17Arg) in FANCL]	This paper
P3	M	PBC	A	FANCA	c.3558dup p.(Arg1187Glufs*28)	Excluded from all analyses	De Rocco et al. (2014) (FA29)
					c.1360‐?_2778+?del p.(Ala454_His926del) (del ex15_28)
P4	F	PBC	A	FANCA	c.1360‐?_1470+?del p.(Ala454_Gln490del) (del ex15)	Excluded from CNV analysis	De Rocco et al. (2014) (FA40)
					c.894‐?_3348+?del p.(Trp298*) (del ex11_33)
P5	M	PBC	A	FANCA	c.3788_3790del p.(Phe1263del)	Confirmed	De Rocco et al. (2014) (FA1)
					c.3788_3790del p.(Phe1263del)
P6	F	PBC	A	FANCA	c.3239G>A p.(Arg1080Gln)	Confirmed	De Rocco et al. (2014) (FA10)
					c.3971C>T p.(Pro1324Leu)
P7	M	PBC	A	FANCA	c.457C>T p.(Gln153*)	Confirmed [c.1466T>C, p.(Ile489Thr) in FANCJ and c.1249G>T, p.(Glu417*) in FANCM]	De Rocco et al. (2014) (FA13)
					c.709+1G>A
P8	M	PBC	A	FANCA	c.3788_3790del p.(Phe1263del)	Confirmed [c.1096_1099dup, p.(Thr367Asnfs*13) in FANCL]	De Rocco et al. (2014) (FA21)
					c.3971C>T p.(Pro1324Leu)
P9	F	PBC	A	FANCA	c.2638C>T p.(Arg880*)	Confirmed [c.‐78‐?_5024+?del (del ex1_44) in FANCD2]	De Rocco et al. (2014) (FA37)
					c.3164G>A p.(Arg1055Gln)
P10	F	LCL	A	FANCA	c.3638_3639del p.(Pro1213Argfs*64)	Confirmed	De Rocco et al. (2014) (FA42)
					c.3971C>T p.(Pro1324Leu)
P11	F	LCL	A	FANCA	c.3761_3762dup p.(Glu1255Argfs*12)	False negativec	De Rocco et al. (2014) (FA43)
					c.2574C>G p.(Ser858Arg)	Confirmed [c.2204G>A, p.(Arg735Gln) in FANCD2]
P12	M	PBC	A	FANCA	c.2290C>T p.(Arg764Trp)	Confirmed	De Rocco et al. (2014) (FA44)
					c.4029T>G p.(His1343Gln)
P13d	M	PBC	A	FANCA	c.1450G>C p.(Glu484Gln)	Confirmed	This paper
					Not found	Not found
P14	M	PBC	A, G	FANCA	c.1115_1118del p.(Val372Alafs*42)	Confirmed	De Rocco et al. (2014) (FA85)
					c.1126C>T p.(Gln376*)
P15	M	PBC	A	FANCA	c.2812_2830dup p.(Asp944Glyfs*5)	Confirmed	De Rocco et al. (2014) (FA20)
					c.‐42‐?_5481+?del (del ex1_43)
P16	M	PBC	A	FANCA	c.1850_1859del p.(Leu617Profs*20)	Confirmed	De Rocco et al. (2014) (FA67)
					c.1827‐?_2778+?del p.(Arg609Serfs*2) (del ex21_28)
P17	F	PBC	A	FANCA	c.457C>G p.(Gln153Glu)	Confirmed [c.2816T>G, p.(Leu939Trp) in FANCN]	De Rocco et al. (2014) (FA65)
					c.3490C>T p.(Pro1164Ser)
					c.1471‐?_1626+?del p.(Val491_Glu542del) (del ex16_17)
P18	F	PBC	A, C, G	FANCA	c.893+5G>A p.(Phe879Valfs*19)	Confirmed [c.1151C>T, p.(Ser384Phe) in FANCD1]	De Rocco et al. (2014) (FA28)
					c.190‐?_283+?del p.(Val64Alafs*43) (del ex3)
P19e	F	PBC	A, G	FANCA	c.1360‐?_1826+?del p.(Ala454Serfs*3) (del ex15_20)	Confirmed	De Rocco et al. (2014) (FA61)
					Not found	Not found
P20f	M	PBC	A, C, G	FANCA	c.4258G>T p.(Glu1420*)	Confirmed [c.874C>G, p.(Pro292Ala) and c.5848T>G, p.(Leu1950Val) in FANCM]	De Rocco et al. (2014) (FA41)
					Not found	Not found
P21	F	PBC	A, G	FANCC	Not found	c.67del p.(Asp23Ilefs*23)	De Rocco et al. (2014) (FA88)
						c.67del p.(Asp23Ilefs*23)
P22	F	LCL	A, G	FANCC	Not found	c.37C>T p.(Gln13*)	De Rocco et al. (2014) (FA89)
						c.692_694del p.(Lys231del)
P23	F	PBC	A, G	FANCC	Not found	c.37C>T p.(Gln13*)	This paper
						c.1069C>T p.(Gln357*) [c.9875C>T, p.(Pro3292Leu) in FANCD1]
P24	F	LCL	G	FANCF	Not found	c.484_485del p.(Leu162Aspfs*103)	This paper
						c.484_485del p.(Leu162Aspfs*103)
P25	M	PBC	A, G	Not found	Not found	Not found	This paper
P26	M	PBC	None	FANCA	nd	c.3788_3790del p.(Phe1263del)	De Rocco et al. (2014) (FA58)
						c.826+3del p.(250_251insGlyAlaPhe MetThrArgCysGlyPheLeu)
P27	F	PBC	None	FANCA	nd	c.1776+7A>G p.(Ile573Serfs*12)	De Rocco et al. (2014) (FA66)
						c.1827‐?_2852+?del p.(Ala610_Arg951del) (del ex21_29)
P28	F	PBC	None	FANCA	nd	c.548G>A p.(Trp183*)g	De Rocco et al. (2014) (FA49)
						c.523‐?_2981+?del p.(Ser175Leufs*5) (del ex6_30)
P29	F	PBC	None	FANCA	nd	c.3660del p.(Asn1221Thrfs*26)	De Rocco et al. (2014) (FA47)
						c.50dup p.(Arg18Profs*19)g
P30	M	LCL	None	FANCL	nd	c.50C>G p.(Pro17Arg)	This paper
						c.676C>T p.(Arg226Cys)
						c.1021T>A p.(Trp341Arg)

^aPBC, peripheral blood cells; LCL, lymphoblast cell line.

^bNucleotide A of the ATG translation initiation start site of the FANCA, FANCC, FANCD1, FANCD2, FANCF, FANCG, FANCJ, FANCL, FANCM, and FANCN cDNAs from GenBank sequences NM_000135.2, NM_000136.2, NM_000059.3, NM_001018115.1, NM_022725.3, NM_004629.1, NM_032043.2, NM_018062.3, NM_020937.2, and NM_024675.3, respectively is indicated as nucleotide +1. In square brackets are potential pathogenetic heterozygous variants identified in genes different from that causing the disease. Large genomic deletions are indicated in bold.

^cMutation localized in a region where the reverse and forward primers of two adjacent amplicons aligned, reducing sequence efficiency of this mutant allele. Mutation was not called by the TSVC because seen only 47 of 262 reads.

^dSib of patient FA70 in De Rocco et al. (2014). As FA 70, who was found to be a mosaic as the second mutant allele (c.596+1G>T) was identified in fibroblast cells but not in LCL, P19 was enrolled as an FA patient with a potential hematopoietic mosaicism. For this reason, the second mutant allele could be missed.

^ePatient with potential hematopoietic mosaicism because of revertant lymphoblastoid cell line. Complementation analysis carried out in peripheral blood T lymphocytes assigned this patient to FANCA genetic group but only one heterozygous mutation was identified. Due to the mosaic suspicion, the second mutant allele could be missed.

^fPotential hematopoietic mosaicism status was not ascertained in this patient, whose peripheral blood cells were the only biological sample available.

^gIdentified by Sanger sequencing of uncovered amplicons.