Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis

Maxim Ivanov; Alina Matsvay; Olga Glazova; Stanislav Krasovskiy; Mariya Usacheva; Elena Amelina; Aleksandr Chernyak; Mikhail Ivanov; Sergey Musienko; Timofey Prodanov; Sergey Kovalenko; Ancha Baranova; Kamil Khafizov

doi:10.1186/s12920-018-0328-z

BMC Medical Genomics

Table 2 Causative mutations identified in 84 patients with diagnosed CF

From: Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis

Allele 1*		Allele 2*		n	PT
PANCREATIC SUFFICIENT DISEASE (N = 37)
3849 + 10kbC > T		F508del		8	M
3849 + 10kbC > T		F508del;L467F		1	M
3849 + 10kbC > T;R668C		F508del		1	M
3849 + 10kbC > T;R668C		R1066C		1	M
3849 + 10kbC > T;R668C		2143delT		1	M
3849 + 10kbC > T		I1295Ffs		1	M
3849 + 10kbC > T		S1226*		1	M
3272-16 T > A^†	R347P^†		394delTT^†	1	M
3272-16 T > A		F508del		3	M
2789 + 5G > A		F508del;L467F		1	M
2789 + 5G > A		ex2,3del		1	M
3272-11A > G		F508del		1	M
E92K		E92K		1	M
E92K		F508del		7	M
E92K		ex2,3del		1	M
S1159P		F508del		1	S
R334W		F508del		1	M
R347P		W1282R		1	M
L138ins		F508del		2	M
L1335P		F508del		1	M
I1295Ffs		F508del		1	S
PANCREATIC INSUFFICIENT DISEASE (N = 47)
Y569H		F508del		1	S
G461E		N1303 K		1	S
S1159F		S1159F		1	M
Q98R		2184insA		1	M
Q98R		G542*		1	M
F508del		F508del		6	S
F508del		W1282R		2	S
F508del		S945 L		2	S
F508del		R1070Q;S466*		1	S
F508del		ex2,3del		4	S
F508del;L467F		ex2,3del		1	S
F508del		2143delT		3	S
F508del;L467F		2143delT		1	S
F508del		2184insA		1	S
F508del		N415*		1	S
F508del		R1239=		2	S
F508del		R785*		1	S
F508del		dup6b,10		1	S
F508del		R709*		1	S
F508del		1898 + 1G > C		1	S
F508del		4374 + 1G > A		1	S
F508del		3821delT		1	S
F508del		L15Ffs		1	S
N1303 K		N1303 K		1	S
N1303 K		ex2,3del		1	S
R785*		R1070Q;S466*		1	S
ex2,3del		ex2,3del		1	S
ex2,3del		2184insA		1	S
ex2,3del		N415*		1	S
394delTT		2184insA		1	S
4374 + 1G > T		4374 + 1G > T		1	S
dup6b,10		712-1G > T		1	S
1716 + 1G > A		2043delG		1	S
2118del4		1248 + 1G > A		1	S

Phenotype is displayed in the PT columns (M – “mild”; S – “severe”, where “mild” is defined as homozygous or heterozygous for class IV-V mutations and “severe” as homozygous for class I-III mutations). cDNA variant names according to HGVS nomenclature are given below the table for each variant. Variants were referenced using NM_000492.3. *Identified variants: 3849 + 10kbC > T (c.3718-2477C > T); 3272-16 T > A (c.3140-16 T > A); 2789 + 5G > A (c.2657 + 5G > A); 3272-11A > G (c.3140-11A > G); E92K (c.274G > A); S1159F (c.3476C > T); R334W (c.1000C > T); R347P (c.1040G > C); Q98R (c.293A > G); L138ins (c.412_413insACT); L1335P (c.4004 T > C); Y569H (c.1705 T > C); G461E (c.1382G > A); S1159P (c.3476C > T); F508del (c.1521_1523delCTT); N1303 K (c.3909C > G); W1282R (c.3844 T > C); S945 L (c.2834C > T); R1070Q (c.3209G > A); R1066C (c.3196C > T); ex2,3del (p.Ser18_Gly91del); 2143delT (c.2012delT); 394delTT (c.262_263delTT); 2184insA (c.2052dupA); 1295Ffs (c.3883delA); R1239 = (c.3717G > A);N415* (c.1240_1244delCAAAA); R785* (c.2353C > T); 4374 + 1G > T (c.4242 + 1G > T); R668C (c.2002C > T);dup6b,10 (c.(743 + 1_744-1)_(1584 + 1_1585-1)dup); S466* (c.1397C > A); R709* (c.2125C > T); S1226* (c.3587C > G); 1898 + 1G > C (c.1766 + 1G > C); 1716 + 1G > A (c.1584 + 1G > A); 4374 + 1G > A (c.4242 + 1G > A); 3874-14C > T (c.3874-14C > G); 3821delT (c.3691delT); 2118del4 (c.1984_1987delCTAA); 1248 + 1G > A (c.1116 + 1G > A); L15Ffs (c.43delC); G542* (c.1624G > T); 2043delG (c.1911delG); L467F (c.1399C > T); † Cis/trans position of alleles could not be identified

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