Speech/Language Disorders Database

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Gene / phenotype associations for DOCK4

  • Click column headers to sort. Click to expand any row to see more details about the particular assertion of an association between variants of DOCK4 and a particular phenotypic variable.
  • Click the Pubmed IDs in the last column to link out to the primary research article. Click the links in the last column to download the full Genotype-Phenotype record as JSON or XML formatted text.
Entrez Id Symbol Location Disorder Brief Phenotype Reference Year Download
9732 DOCK4 7q31.1 Dyslexia Susceptibility to developmental dyslexia Pagnamenta et al 2010 JSON | XML

Additional Phenotype Details: Typical diagnostic criteria for dyslexia include remarkable deviation from population mean on age-appropriate standardized reading and spelling tests, such as those in the Wechsler intelligence tests. Reading tests may include oral reading and non-word reading.

Usually, a Performance Intelligence Quotient (PIQ) of at least 70 or 80 on the age-appropriate Weschler test is also a criterion.

References (fourth editions of these tests are also now available):

Wechsler D. 1991. Wechsler intelligence scale for children- third edition (WISC-III). San Antonio: The Psychological Corporation.

Wechsler D. 1997. Wechsler Adult Intelligence Scale-III (WAIS-III). San Antonio: The Psychological Corporation.

Basic Study Type:  Candidate gene sequencing

Study Cohort: 
606 individuals with dyslexia, from the NeuroDys dyslexia cohort

643 unrelated Dutch control subjects
1448 control subjects from the British 1958 Birth Cohort

Genotyping Methods: 
The Infinium 550 K SNP BeadArray (Illumina) was used according to the manufacturer's instructions for DNA from all control subjects and 232 probands. The Infinium 300K SNP BeadArray (Illumina) was used for DNA from 374 probands.

Analysis Methods: 
Copy number variation. "Log R ratios and B allele frequencies were used to call CNVs using the QuantiSNP algorithm (29), with L = 2M, expectation-maximization iterations = 50, MaxCopy = 4, and correcting for local GC content. High confidence calls with log Bayes Factor > 10 were used, whereby we expected approximately one false CNV call per sample."

Other Details:  This study also looked at hundreds of individuals with autism spectrum disorders(ASD) and their families. They looked at these dyslexic subjects because 6 of 9 related individuals with a DOCK4 microdeletion also had poor reading ability. Because the research concerning ASD did not focus on speech/language aspects of ASD, that part of the study is not discussed here.

"Reading and spelling ability were assessed by means of a short battery of Dutch word reading, nonword reading, text reading, and spelling tests."


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