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Age group (years) n % < 1 4 5.9 1–5 14 20.3 6–10 21 30.4 11–15 13 18.8 16–20 15 21.7 > 20 2 2.9 - Table 2
- Cystic fibrosis transmembrane conductance regulator (CFTR) variants identified in patients with cystic fibrosis from Saudi Arabia. The identity of the complementary deoxyribonucleic acid (cDNA), protein, legacy, and exon region of each identified CFTR variant is listed.
Variant number cDNA name Protein name Legacy name Region Reference 1 c.1521_1523delCTT p.Phe508del [delta]F508 Exon 11 (16, 17) 2 c.1418delG p.Gly473GlufsX54 1548delG Exon 11 (18) 3 c.579+1G>T - 711+ 1G- >T Intron 5 (19) 4 c.2988+1G>A - 3120+ 1G- >A Intron 18 (20, 21) 5 c.3419T>A p.Met1140Lys M1140K Exon 21 (22) 6 c.4124A>C p.His1375Pro H1375P Exon 25 (23) 7 c.3700A>G p.Ile1234Val I1234V Exon 22 (24) 8 c.2739T>A p.Tyr913X Y913X Exon 17 (25) 9 c.443T>C p.Ile148Thr I148T Exon 4 (26) 10 c.2657+5G>A - 2789+ 5G>A Intron 16 (27) 11 *1549 deIG - - - In this study 12 delExon19-21 - - - (17) 13 c.1697C>A p.Ala566Asp - Exon 12 (28) 14 c.2620-26A>G - 2752- 26A- >G Intron 15 (29) 15 c.2051_2052delAAinsG p.Lys684SerfsX38 2183AA- >G Exon 14 (30) 16 c.1660_1661insA p.Ala554AspfsX14 - Exon 12 (31) 17 c.4251delA p.Glu1418ArgfsX14 4382delA Exon 27 (32) 18 c.3717+12191C>T - 3849+ 10kbC- >T Intron 22 (23) 19 c.220C>T p.Arg74Trp R74W Exon 3 (33) 20 c.530T>C p.Ile177Thr I177T Exon 5 (34) 21 c.1408A>G p.Met470Val M470V Exon 11 (35) 22 c.2562T>G - 2694T/G Exon 15 (36) 23 c.4389G>A - 4521G/A Exon 27 (37) 24 c.869+11C>T - 1001+ 11C/T Intron 7 (38) 25 c.91C>T p.Arg31Cys R31C Exon 2 (39) 26 c.1399C>T p.Leu467Phe 1531C/T (L467F) Exon 11 (40) - Table 3
- The number of patients retaining common cystic fibrosis transmembrane conductance regulator variants and their genotype.
Variant number cDNA Name n (%) Heterozygous Homozygous 1 c.1521_1523delCTT 13 (19.0) 4 9 2 c.1418delG 7 (10.0) 1 6 3 C.579+G>T 6 (8.7) - 6 4 c.2988+1G>A 6 (8.7) 1 5 5 c.3419T>A 5 (7.2) - 5 6 c.4124A>C 4 (5.8) - 4 cDNA: complementary deoxyribonucleic acid
- Table 4
- Types of bacterial colonization from the first respiratory culture in patients with CF with common CFTR variants.
Variant number cDNA Name First respiratory culture 1 c.1521_1523delCTT Streptococcus pneumoniae
Pseudomonas aeruginosa
Haemophilus influenzae
Escherichia coli
Klebsiella sp.
Branhamella catarrhalis
Aspergillus sp.
Pseudomonas sp.2 c.1418delG Pseudomonas aeruginosa
Haemophilus influenzae
Streptococcus pneumoniae
Staphylococcus aureus3 c.579+G>T Streptococcus pneumoniae
Haemophilus influenzae
Pseudomonas aeruginosa
Branhamella catarrhalis
Pseudomonas aeruginosa
Klebsiella pneumoniae4 c.2988+1G>A Pseudomonas aeruginosa
Streptococcus pneumoniae
Pseudomonas aeruginosa
Branhamella catarrhalis
Staphylococcus aureus5 c.3419T>A Staphylococcus aureus 6 c.4124A>C Stenotrophomonas maltophilia
Enterobacter cloacaeCFTR: cystic fibrosis transmembrane conductance regulator, cDNA: complementary deoxyribonucleic acid
- Appendix 1
- A description of the consequence, clinical significance, genetic variation and condition of the 26 identified CFTR variants.
Variant # cDNA Name Consequence Clinical significance Variation Location Conditions(s) 1 c.1521_1523delCT T deletion of Phe at 508 Pathogenic NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) Cystic fibrosis, Hereditary pancreatitis, 2 c.1418delG frameshift Pathogenic NM_000492.3(CFTR):c.1418delG (p.Gly473Glufs) Cystic fibrosis, not provided 3 c.579+1G>T mRNA splicing defect Pathogenic NM_000492.3(CF7R):c.579+1 G>T Cystic fibrosis, Hereditary pancreatitis, not specified, 4 c.2988+1G>A mRNA splicing defect Pathogenic NM_000492.3(CFTR):c.2988+1G>A Cystic fibrosis, Hereditary pancreatitis 5 c.3419T>A MettoLysat1140 N/A NM_000492.3(CFTR):c.3419T>A (p.Met1140Lys) Cystic fbrosis 6 c.4124A>C His to Pro at 1375 Likely pathogenic NM_000492.3(CFTR):c.4124A>C (p.His1375Pro) Cystic fibrosis 7 c.3700A>G lie to Val at 1234 Pathogenic NM_000492.3(CFTR):c.3700A>G(p.lle1234Val) Cystic fbrosis 8 c.2739T>A Tyr to Stop at 913 Pathogenic NM 000492.3<CFTR):c.2739T>A (p.Tyr913Ter) Cystic Fibrosis 9 c.443T>C lie to Thr at 148 Conflicting interpretations of pathogenicity NM 000492.3(CFTR):c.443T>C (p.lle148Thr) 10 c.2657+5G>A mRNA splicing defect Pathogenic NM_000492.3(CFTR):c.2657+5G>A 11 1549 deIG 12 delExon19-21 13 c.16970A Uncertain significance NM_000492.3(CFTR):c.1697C>A (pAla566Asp) Cystic fibrosis 14 c.2620-26A>G mRNA splicing defect Likely benign(2);Uncertain significance(1) NM_000492.3(CFTR):c.2620-26A>G 15 c.2051_2052delAA insG frameshift Pathogenic NM_000492.3(CFTR):c.2051_2052delAAinsG (pj.ys684Serfs) Cystic fibrosis 16 c.1660_1661insA Notspecifc NM_000492.3(CFTR):c.1660_1661insA (pAla554Aspfs) N/A 17 c.4251delA frameshift pathogenic (p.Glu1418Argfs) N/A 18 c.3717+12191C>T creation of splice acceptor site Pathogenic NM_000492.3(CFTR):c.3718-2477C>T Cystic fbrosis 19 c.220C>T Arg to Trp at 74 Uncertain significance NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) Cystic fibrosis 20 c.530T>C lie to Thr at 177 Uncertain significance NM_000492.3(CFTR):c.530T>C (p.lie177Thr) Cystic Fibrosis 21 c.1408A>G sequence variation Benign/Likely benign NM_000492.3(CFTR):c.1408G>A(p.Val470Met) 22 c.2562T>G sequence variation Benign/Likely benign NM_000492.3(CFTR):c.2562T>G(p.Thr854=) 23 c.4389G>A sequence variation Benign/Likely benign NM_000492.3(CFTR):c.4389G>A(p.Gln1463=) 24 c.869+11C>T sequence variation Benign/Likely benign NM_000492.3(CFTR):c.869+11C>T 25 c.91C>T Conflicting interpretations of pathogenicity NM_000492.3(CFTR):c.91C>T(p.Arg31Cys) 26 c.1399C>T sequence variation Conflicting interpretations of pathogenicity NM_000492.3(CFTR):c.1399C>T (p.Leu467Phe Cystic fibrosis, not provided
