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Table 2 Details of patients' phenotypes and PCD-associated sequence changes detected in thirteen Polish families

From: Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD)

Family

#

Patient #

s.i.

nNO

% cilia with the defects identified in electron microscope

Mutation 1

Mutation 2

     

Exon or Intron

DNA

Protein

SVM score

Exon or Intron

DNA

Protein

SVM score

125

480

yes

na

100% ODA/IDA, 5% MT

17

1612G > A

A538T

-1.3

17

1612G > A

A538T

-1.3

106

412

yes

na

38%ODA/IDA, 46% ODAorIDA, 23% MT

17

1612G > A

A538T

-1.3

17

1612G > A

A538T

-1.3

"

413

no

na

na

"

"

"

"

"

"

"

"

151

555

yes

47

80% ODA/IDA,4% MT

17

1612G > A

A538T

-1.3

17

1612G > A

A538T

-1.3

"

556

yes

3

100% ODA/IDA

"

"

"

"

"

"

"

"

161

124

yes

na

85% ODA/IDA, 9% MT

Intr1

IVS1+2-3insT

S17fsX25

nr

17

1612G > A

A538T

-1.3

108

421

no

na

87% ODA/IDA,13% IDA

Intr1

IVS1+2-3insT

S17fsX25

nr

17

1612G > A

A538T

-1.3

"

422

no

na

100% ODA/IDA,13% IDA, 18% MT

"

"

"

"

"

"

"

"

124

478

yes

na

na

Intr1

IVS1+2-3insT

S17fsX25

nr

Intr1

IVS1+2-3insT

S17fsX25

nr

112

434

yes

na

na

Intr1

IVS1+2-3insT

S17fsX25

nr

Intr1

IVS1+2-3insT

S17fsX25

nr

231

520

no

na

na

Intr1

IVS1+2-3insT

S17fsX25

nr

Intr1

IVS1+2-3insT

S17fsX25

nr

224

507

yes

na

na

Intr1

IVS1+2-3insT

S17fsX25

nr

16

1538T > C

L513P

-2.1

238

537

yes

na

na

13

1163G > A

C388Y

-2.7

16

1543G > A

G515S

-2.4

244

548

no

48

na

Intr1

IVS1+2-3insT

S17fsX25

nr

?

?

?

?

216

355

no

37

na

Intr1

IVS1+2-3insT

S17fsX25

nr

?

?

?

?

"

356

no

49

na

"

"

"

"

"

"

"

"

"

357

no

28

na

"

"

"

"

"

"

"

"

145

336

yes

na

na

3'UTR

+245G > A

SNP

nr

?

?

?

?

  1. None of the reported changes were found in the control group of ~200 non-PCD chromosomes. The new +245g > a in the 3'UTR, assumed to represent SNP rather than a pathogenetic mutation, was not included in the analysis of DNAI1 mutations prevalence. nNO-nasal NO (parts per billion); nr-not relevant; na-not available; ? - unknown; splicing D-conserved donor splice site; MT-microtubules.