Skip to main content

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
  1. 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
Back to article page

BMC Medical Genomics

ISSN: 1755-8794

Contact us