Table 3

 Molecular characterisation of the CFTR rearrangements

Patient no.RearrangementSimplified nameExon(s) involvedLinked haplotype IVS1(CA)-IVS8(CA)- IVS17b(TA)-IVS17b(CA)Motif sequence at the breakpoints
The nomenclature recommendations were followed ( but the A of the ATG translation start codon was numbered as +133, according to the current CFTR gene numbering (GenBank NM_000492.2) and the CF mutation database. The new rearrangements are indicated in bold.
*The same indel was described in a CF patient with paternal isodisomy22 and further found in a French CF patient.14
†The same CFTRdele2 as that described by Mekus and Tümmler ( was identified using specific primers provided by T Dörk.
‡Abnormal segregation of the IVS17b(TA) microsatellite was observed using the flanking primers,42 as the 3′ breakpoint is located within this site. The number of (TA) repeats, indicated in italics, has thus been determined by sequencing.
§The linked haplotype was demonstrated in case nos. 5 and 6 and hypothesised in case nos. 7 and 8.
¶The precise IVS1(CA) allele could not be determined, as the father’s DNA was not available.
**The linked haplotype was hypothesised, considering the most frequent haplotype IVS8(CA)23-IVS17b(TA)33-IVS17b(CA)13 linked to G542X.43
1c.136_c.185+69del119bpins299bp*136del119ins299Part of 1 (codons 2–18)23–16–29–13Inverted CCATG
3c.3413_c.3499+268del355bpins TGTTAA 3413del355ins6 Part of 17b (codons1094–1122)23–16–del–13Direct CTGT andAT rich
4c.2752–674_c.3499+198del9855bp CFTR dele14b–17b 14b–17b23–16–13–13‡Direct TCGG andAT rich
5–8c.3121–977_c.3499+248del2515bp CFTR dele17a–17b 17a–17b23–16–7–13‡,§Symmetric ATG andAT rich
9[c.297−?_c.1716+?del; c.2752−?_c.3120+?del] CFTR dele3–10,14b–16 3–10 and 14b–1622 or 23–16–7–17¶ND
10CFTRdele1–24 CFTR dele1–24 1–24del–del–del–delND
11c.406−?_c.1341+?dup CFTR dup4–8 4–827–17–7–17**ND