Table 3.
Recent studies (2013–2021) reporting novel genomic loci and genes associated with SLD and related traits using high-throughput methodologies.
| Phenotype (Trait/Subphenotype) |
Gene(s) | Experimental Approach | Reference |
|---|---|---|---|
| Reading abilities (reading, spelling) |
Suggestive associations only | GWAS (meta-analysis) | [108] |
| Dyslexia or Dyslexia+SLI comorbidity |
ZNF385D (comorbid cases only) |
GWAS (case-control) | [107] |
| Dyslexia (phonological coding skill) |
Suggestive linkage and suggestive associations only | GWAS (case-control) | [67] |
| Dyslexia | PCDH11X | CNV + SNP microarray (11 families) |
[129] |
| Dyslexia/Dyscalculia | 15q11.2(BP1-BP2) harboring TUBGCP5, NIPA1, NIPA2 and CYFIP1 | Targeted CNV and neuroimaging analysis | [43,44] |
| Reading abilities (reading, spelling, phonological awareness) |
RBFOX2, CCDC136/FLNC | GWAS (meta-analysis) | [109] |
| Dyslexia | NSF | CNV + SNP microarray (10 families) |
[130] |
| Dyslexia | CEP63 | WES (single family) | [146] |
| Dyslexia | S100B | Targeted NGS (11 genes panel) | [102] |
| Dyslexia | CCDC136 and FLNC | Targeted NGS—11 loci harboring 25 genes | [145] |
| Dyslexia | NCAN | SNP microarray and linkage analysis, WES (single family) |
[69] |
| Dyslexia | PCDHG gene cluster | SNP microarray and WES (single family) |
[70] |
| Dyslexia/8 cognitive traits |
MIR924HG (associated with RAN) |
GWAS (case-control) | [114] |
| Dyslexia |
VEPH1 (gene-based analysis) |
GWAS (case-control) | [26] |
| Dyslexia | SPRY1 | SNP microarray and linkage analysis (single family) |
[71] |
| Reading ability (word reading) |
LINC00935 and CCNT1 | GWAS (case-control) | [157] |
| Mathematical abilities | MYO18B | GWAS (case-control) | [118] |
| Mathematical abilities | rs789859 intergenic to LSG1 and FAM43A (3q29) | GWAS (high versus low mathematical ability) | [120] |
| Mathematical abilities | SPOCK1 | GWAS (meta-analysis) | [121] |
SLI: specific language impairment, GWAS: Genome-Wide Association Study, WES: whole exome sequencing, CNV: copy number variant, SNP: single nucleotide polymorphism.