DYX1C1 E417X - GET-Evidence

Curation:
Currentness:

DYX1C1 E417X

(DYX1C1 Glu417Stop)


Short summary

One study reports this variant to be associated with dyslexia. The study group was relatively small and so the results did not have strong significance. If they are representative this variant is associated with a doubled risk for dyslexia, but it is unclear whether the effect would be additive, dominant, or recessive.

Variant evidence
Computational -
Functional -
Case/Control 2

See Taipale M et al. 2003 (12954984).

Familial -
 
Clinical importance
Severity 2
Treatability -
Penetrance 3
 

Impact

Low clinical importance, Uncertain pathogenic

(The "low clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • A @ chr15:55722882: 20.1% (2165/10746) in EVS
  • A @ chr15:53510173: 20.3% (26/128) in GET-Evidence
  • Frequency shown in summary reports: 20.1% (2165/10746)

Publications
 

Taipale M, Kaminen N, Nopola-Hemmi J, Haltia T, Myllyluoma B, Lyytinen H, Muller K, Kaaranen M, Lindsberg PJ, Hannula-Jouppi K, Kere J. A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain. Proc Natl Acad Sci U S A. 2003 Sep 30;100(20):11553-8. Epub 2003 Sep 3. PubMed PMID: 12954984; PubMed Central PMCID: PMC208796.

This study reported an association of variants in this gene with dyslexia. The statistical significance of this variant, after Bonferroni correction, is reported as 0.048.

Assuming an incidence of dyslexia of 5%, these numbers imply an attributable increased risk of ~5.2% (about double)

Genomes
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het A @ chr15:55722882

 

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het A @ chr15:55722882

 

 

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr15:55722882

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr15:55722882

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr15:55722882

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr15:55722882

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het A @ chr15:55722882

 

GS06994 - var-GS06994-1100-36-ASM
hom A @ chr15:53510174

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr15:53510174

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr15:53510174

 

GS18504 - var-GS18504-1100-36-ASM
hom A @ chr15:53510174

 

GS18505 - var-GS18505-1100-36-ASM
hom A @ chr15:53510174

 

GS18508 - var-GS18508-1100-36-ASM
hom A @ chr15:53510174

 

GS19020 - var-GS19020-1100-36-ASM
het A @ chr15:53510174

 

GS19025 - var-GS19025-1100-36-ASM
het A @ chr15:53510174

 

GS19026 - var-GS19026-1100-36-ASM
het A @ chr15:53510174

 

GS19238 - var-GS19238-1100-36-ASM
het A @ chr15:53510174

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr15:53510174

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr15:53510174

 

GS19700 - var-GS19700-1100-36-ASM
het A @ chr15:53510174

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr15:53510174

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr15:53510174

 

GS21767 - var-GS21767-1100-36-ASM
het A @ chr15:53510174

 

Other external references
 

    dbSNP
  • rs57809907
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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