Table 3 The distribution of mutations reported up to date in the KS and CDO families

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%)