The true panel of cystic fibrosis mutations in the Sicilian population

Chamayou, Sandrine; Sicali, Maria; Lombardo, Debora; Maglia, Elena; Liprino, Annalisa; Cardea, Clementina; Fichera, Michele; Venti, Ermanno; Guglielmino, Antonino

doi:10.1186/s12881-020-0958-9

BMC Medical Genetics

Table 1 CFTR Genotype of the tested eastern Sicilian infertile population

From: The true panel of cystic fibrosis mutations in the Sicilian population

	CFTR Genotype		Male patient	Female patient	Total	References
Heterozygous for pathogenic mutation	*D110H*/N		0	1	1	[7, 8, 24,25,26]
	*M952I*/N		2	1	3	[7, 25]
	*R74W*/N		3	2	5	[7, 8, 24,25,26]
	*S945L*/N		1	0	1	[7, 8, 24,25,26]
	**D1270N/ N**		2	0	2	[7, 8, 24,25,26]
	*D110E*/N		1	1	2	[7, 8, 24,25,26]
	*G1244E*/N		0	1	1	[7, 8, 24,25,26]
	*c.2490+2T>C*/N		3	1	4	[7, 26]
	*L206W*/N		1	0	1	[7, 8, 24,25,26]
	*G1069R*/N		3	0	3	[7, 8, 24,25,26]
	*F1052V*/N		5	3	8	[7, 8, 24,25,26]
	*621+3A>G*/N		1	0	1	[7, 25, 26]
	*P5L*/N		0	1	1	[7, 8, 24,25,26]
	*R334Q*/N		1	0	1	[7, 8, 24,25,26]
	*3659delC*/N		1	0	1	[7, 8, 24,25,26]
	*R553X*/N		2	0	2	[7, 8, 24,25,26]
	*F508del*/N		16	6	22	[7, 8, 24,25,26]
	*D1152H*/N		1	0	1	[7, 8, 24,25,26]
	*W1282X*/N		2	0	2	[7, 8, 24,25,26]
	*N1303K*/N		2	1	3	[7, 8, 24,25,26]
	*G542X*/N		3	1	4	[7, 8, 24,25,26]
	*2183AA→G*/N		1	0	1	[7, 8, 24,25,26]
	*CFTRdele22,23*/N		1	0	1	[7, 8, 24,25,26]
	Total		52	19	71
HM	*D1270N/D1270N*		1	0	1	[7, 8, 24,25,26]
HM	Total		1	0	1
HE	*G542X/F1052V*		1	0	1	[7, 8, 24,25,26]
HE	Total		1	0	1
Mutation/ polyT-polyTG	**F508del/N-TG12; 5T**		1	0	1	[7, 8, 24,25,26]
	**F1052V/N- TG12; 5T**		1	0	1	[7, 8, 24,25,26]
	Total		2	0	2
Pathogenic CA	*R74W; D1270N;V201M*/N		1	1	2	[7, 8, 24,25,26]
	**F508del; A238V/N**		1	0	1	[7, 8, 24,25,26]
	*D1270N; R74W*/N		2	0	2	[7, 8, 24,25,26]
	Total		4	1	5
polyT-polyTG	TG12; 5T		48	6	54	[7, 8, 24,25,26]
polyT-polyTG	Total		48	6	54
Non-Pathogenic CA	R75Q;P1290P;4251G/A/N		1	0	1	[7, 8, 24,25,26]
	G576A;R668C/N		6	0	6	[7, 8, 24,25,26]
	Total		7	0	7
VUS	VUS^a	T582S/N	1	1	2	[7]
		Y1073C/N	1	0	1	[7]
		T760M/N	1	0	1	[7]
		E528K/N	1	0	1	[7]
		Y1092C/N	1	0	1	[7]
		D1445N/N	3	0	3	[24, 25]
		c.1633G>A/N	1	0	1	[24]
		S18G/N	2	0	2	[24, 25]
		c.26C>T/N	2	0	2	[24, 25]
		L223F/N	1	0	1	[24]
		c.1806C>A/N	1	0	1	[24]
		c.3710G>A/N	1	0	1	[25, 26]
		c.5282delA/N	2	0	2	[24]
		c.622-116A>G/N	1	0	1	[24]
		E528K	1	0	1	[7, 26]
		Y84H/N	1	0	1	[7, 26]
		G1130A/N	1	0	1	[7, 26]
	VUS 1	712-92T>A/N	1	0	1	[24, 25]
		1898+73 T>G/N	2	1	3	[24, 25]
		R74Q/N	0	1	1	[24, 25]
	VUS 2	S42F/N	1	1	2	[24, 25]
	VUS 3	M348K/N	4	0	4	[24, 25]
		K68E/N	1	0	1	[24, 25]
		A959V/N	1	1	2	[24, 25]
		D192G/N	1	0	1	[24, 25]
	VUS 4	c.1762G>A/N	0	1	1	[24, 25]
		Y301C/N	1	0	1	[24, 25]
		V201M/N	2	0	2	[24, 25]
		E1409K/N	0	1	1	[24, 25]
		L137P/N	1	0	1	[24, 25]
		c.1495C>T/N	1	0	1	[24, 25]
		Total	38	6	44

CA: complex allele; HE: heterozygous compound; HM: homozygous; N: wild-type allele; VUS: variant of uncertain significance
*: classification as VUS 1 to 4 has not been determined yet according to The Human Genomics Community (24) and CFTR-France Database (25). Red ink: pathogenic CFTR mutation
Nota bene: the variant pathogenicity was referred according to referenced database: www.genet.sickkids.on.ce [7]; cftr2.org/mutations_historyCFTR2_11March2019(1).xlsx [8]; varsom.com [24]; www.cftr.iurc.mont.inserm.fr [25]; www.ncbi.nlm.nih.gov/clinvar/ [26]

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