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Table 2 nNO, Genetic and TEM information in This Cohort

From: Clinical and genetic features of primary ciliary dyskinesia in a cohort of consecutive clinically suspect children in western China

patients

Sex

Gene

variant: coding

variant: protein

Type mutation

source

mutation on state

ACMG

nNO(ppb)

TEM

P1

F

DNAH11

c.7999C > T

p.Q2667X

Nonsense

M

Compound heterozygous t

Path

NA

Normal

 

DNAH11

c.10691 + 2 T > G

NA

Splice site

P

Path

  

P2

F

DNAH11

c.1295delA

p.Asn432fs

Frame shift

P

Compound heterozygous

LP

NA

NA

 

DNAH11

c.1304 T > A

p.Phe435Tyr

Missense

M

 

VUS

  
 

DNAH11

c.3426-1G > A

NA

Splice site

M

 

Path

  

P3

M

HYDIN

c.14641delG

p.V4881fs

Frame shift

M

Compound heterozygous

Path

NA

Normal

 

HYDIN

c.7159-1G > A

Na

Splice site

P

Path

  
 

HYDIN

c.11602A > G

p.T3868A

Missense

P

 

VUS

  
 

DNAAF1

c.353-5G > A

Na

Splice site

p

 

VUS

  
 

DNAAF1

c.1300G > A

p.G434R

Missense

M

 

VUS

  

P4

M

PIH1D3

Xq22.3(103,903,560–106,846,604) × 0

NA

Deletion

M

Hemizygous

Path

NA

MTD/CA

P4-1

M

PIH1D3

Xq22.3(103,707,506–106,837,135) × 0

NA

Deletion

M

Hemizygous

Path

NA

NA

P5

M

CCDC40

c.2677A > T

p.K893X,250

Nonsense

P

Compound heterozygous

Path

NA

NA

 

CCDC40

c.993_c.994insT

p.Y332Lfs*2

Frame shift

M

LP

  

P5-1

F

CCDC40

c.2677A > T

p.K893X,250

Nonsense

P

Compound heterozygous

Path

NA

IDA/MTD/CA

 

CCDC40

c.993_c.994insT

p.Y332Lfs*2

Frame shift

M

LP

  

P6

M

DNAI2

c.262delC

p.(Leu88fs)

Frame shift

M/P

Homozygous

LP

NA

NA

P7

F

LRRC6

c.1019dupA

p.Y340_V3 41delinsX

Nonsense

M/P

Homozygous

LP

NA

MTD

P8

M

RSPH9

c.578delC

p.P193fs*4

Frame shift

M/P

Homozygous

LP

NA

MTD/CA

P9

M

CCNO

c.267-268insAGCCC

p.V90Sfs*6

Frame shift

M

Compound heterozygous

Path

NA

Acilia

 

CCNO

c.262-263insGGCCC

p.Q88Rfs*8

Frame shift

P

 

Path

 

P10

F

RSPH4A

c.922-1G > A

NA

Splice site

M

Compound heterozygous

LP

43

Acilia

 

RSPH4A

c.1069G > A

p.G357R

Missense

P

 

VUS

  

P17

F

DNAH11

c.11498C > T

p.A3833V

Missense

P

Compound heterozygous

VUS

4

NA

 

DNAH11

c.7891 T > A

p.F2631I

Missense

M

 

VUS

  

P24

M

DRC1

c.880G > A

p.Asp294Asn

Missense

P

heterozygous

VUS

NA

ODA + IDA

 

CCDC103

c.182G > A

p.Arg61Gln

Missense

P

heterozygous

VUS

  
 

NME8

c.416A > T

p.Asp139Val

Missense

M

heterozygous

VUS

  

P25

M

HYDIN

c.7039C > T

p.(Gln2347*)

Nonsense

P

heterozygous

LP

NA

ODA + IDA

 

NME8

c.1059dupA

p.(Ser354Ilefs)

Frame shift

M

heterozygous

LP

  
 

RSPH4A

c.2 T > C

NA

Splice site

M

heterozygous

LP

  
 

DNAH5

c.13286G > A

p.(Arg4429Gln)

Missense

M

heterozygous

VUS

  

P36

M

Negative

      

NA

ODA + IDA

  1. IDA Inner dynein arm, M Maternal, P Paternal, NA Not applicable, ODA Outer dynein arm, TEM Transmission electron microscopy, MTD Microtubular disorganization, CA Central apparatus, Path Pathogenic, VUS Variants of uncertain significance, nNO Nasal nitric oxide, ppb Parts per billion
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BMC Pediatrics

ISSN: 1471-2431

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