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Table 5 Summary of most highly prioritized variants in each study participant a

From: Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech

Participants

Genes

Total depth coverage

Impact

Nucleotide description

Protein position

Associated phenotype

Functional association

Report category

1

ATP13A4

43

NS damaging

g.1938A>T

p.Glu646Asp

ASD, CAS

Postulated roles in the developing nervous system and early neuronal development

VUS

 

KIAA0319

96

NS damaging

c.931G>A

p.Ala311Thr

Developmental dyslexia, SLI

Adhesion between migrating neurons radial glial fibers

VUS

2

ATP13A4

59

NS damaging

g.1938A>T

p.Glu646Asp

ASD, CAS

Postulated roles in the developing nervous system and early neuronal development

VUS

3

No reportable findings

       

4

CNTNAP2

39

Splice consensus

c.3714-7insTTG

N/A

Intellectual delay, ASD, CAS

Local differentiation of axons into distinct functional subdomains

VUS

 

ATP13A4

63

NS damaging

g.1938A>T

p.Glu646Asp

ASD, CAS

Postulated roles in the developing nervous system and early neuronal development

VUS

5

No reportable findings

       

6

CNTNAP2

52

NS damaging

c.511C>T

p.Arg171Cys

Intellectual delay, ASD, CAS

Local differentiation of axons into distinct functional subdomains

Likely pathogenic

7

CNTNAP1

10

NS damaging

c.3191G>A

p.Arg1064Gln

No human phenotype

Formation and maintenance of neuronal cell connections

VUS in GUS

8

FOXP1

15

NS damaging

c.320T>C

p.Ile107Thr

Developmental delay, expressive language deficits, ASD

Regulation of gene transcription during development

Likely pathogenic

9

KIAA0319

112

NS damaging

c.931G>A

p.Ala311Thr

Developmental dyslexia, SLI

Adhesion between migrating neurons and radial glial fibers

VUS

 

SETX

191

NS damaging

g.2975A>G

p.Lys992Arg

AOA2

Suggested to be involved with DNA and RNA processing

VUS in GUS

10

CNTNAP2

39

Splice consensus

c.3714-7insTTG

N/A

Intellectual delay, ASD, CAS

Local differentiation of axons into distinct functional subdomains

VUS

 

KIAA0319

80

NS Damaging

c.931G>A

p.Ala311Thr

Developmental dyslexia, SLI

Adhesion between migrating neurons and radial glial fibers

VUS

  1. aAOA2, Ataxia and oculomotor apraxia type 2; ASD, Autism spectrum disorder; CAS, Childhood apraxia of speech; GUS, genes of uncertain significance; NS, nonsynonymous; SLI, specific language impairment; VUS, variants of uncertain significance.