Table 3.
The distribution of mutations reported up to date in the KS and CDO families
| Study | Pennarun99 | Guichard01 | Zariwala01 | Zariwala06 | Failly08 | This study | All | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| KS | CDO | KS | CDO | KS | CDO | KS | CDO | KS | CDO | KS | CDO | KS | CDO | |||
| Families (n = 487) | ||||||||||||||||
| Cohort size (# families) | 2 | 4 | 34 | - | 5 | 2 | 93 | 86 | 61 | 43 | 74 | 83 | 269 | 218 | ||
|
Families with mutations detected (% of all studied PCD families) |
2 mutations | 1 | 3 | 1 | 1 | 7 | 7 | 1 | 1 | 8 | 2 |
21 (8%) |
17 (8%) |
|||
| 1 mutation | 1 | 1 | 2 | 2 | ||||||||||||
| Exon/Intron | Mutation | Effect | Chromosomes with mutations (n = 70) | |||||||||||||
| In1 | IVS1+2-3insT | S17fsX25 | 1 | 3 | 1 | 1 | 10 | 7 | 2 | 2 | 6 | 5 | 22 | 16 | ||
| Ex5 | 282-283 insAATA | G95N fsX24 | 1 | 1 | ||||||||||||
| Ex6 | 463delA | T155LfsX18 | 1 | 1 | ||||||||||||
| Ex7 | 520G > A | E174L | 1 | 1 | ||||||||||||
| In7 | IVS7-2A > G | splicingAcc | 1 | 1 | ||||||||||||
| Ex10 | 874C > T | Q292X | 1 | 1 | ||||||||||||
| In10 | IVS10-4-7 delGTTT | splicingAcc | 1 | 1 | ||||||||||||
| Ex13 | 1163G > A | C388Y | 1 | 1 | ||||||||||||
| " | 1212T > G | Y404X | 1 | 1 | ||||||||||||
| " | 1222G > A | V408M | 1 | 1 | ||||||||||||
| " | 1307G > A | W436X | 1 | 1 | ||||||||||||
| Ex16 | 1490G > A | R468-K523del | 1 | 1 | ||||||||||||
| " | 1538T > C | L513P | 1 | 1 | ||||||||||||
| " | 1543G > A | G515S | 2 | 1 | 3 | |||||||||||
| Ex17 | 1612G > A | A538T | 1 | 1 | 7 | 1 | 8 | 2 | ||||||||
| " | 1644G > A | W548X | 1 | 1 | ||||||||||||
| " | 1657-68del | T553-F556del | 1 | 1 | ||||||||||||
| " | 1703G > C | W568S | 1 | 1 | 1 | 1 | ||||||||||
| " | 1704G > A | W568X | 1 | 1 | ||||||||||||
| Ex19 | 1926-7insCC | I643PfsX48 | 1 | 1 | ||||||||||||
| In19 | IVS19+1G > A | A607-K667del | 1 | 1 | ||||||||||||
| Number of chromosomes with DNAI1 mutations (% of all PCD chromosomes) | 41 (8%) | 29 (7%) | ||||||||||||||