Table 1.
Top candidate ASD-relevant tandem repeat loci
| Coordinate and risk motifs1 | N (cases) | % (pop.2) | Gene (region) | Known ASD gene | Known disease-linked expansion | OMIM disorder |
|---|---|---|---|---|---|---|
| chr19:54187285-54188613 (AAAG;AAAGGAAG;AAGG) |
10 | 0.06 |
MBOAT7 (intronic) |
Known | Novel | Mental retardation, autosomal recessive |
| chr9:69036648-69037984 (AAG;AAGGAG) |
8 | 0.1 |
FXN (intronic) |
Novel | Known | Friedreich’s ataxia |
| chr19:45769551-45770697 (AGC) |
7 | 0.1 |
DMPK (3′UTR) |
Known | Known | Myotonic dystrophy type 1 |
| chr13:102160822-102162469 (AAGGAG;AAGAGG;AAAGAAGAAG) |
7 | 0 | FGF14 (intronic) |
Novel | Novel | Spinocerebellar ataxia type 27 |
| chr17:39182673-39183931 (AAGGAGGAG;AAGAAGGAG) |
7 | 0 |
CACNB1 (intronic) |
Novel | Novel | NA |
| chr11:126063945-126066092 (AAGAGGTGGCAGTATT) |
6 | 0 |
CDON (upstream) |
Novel | Novel | Holoprosencephaly |
| chr17:12693129-12694105 (AAAAT) |
6 | 0.1 |
MYOCD (intronic) |
Novel | Novel | NA |
| chr12:102440998-102442508 (AAG;AAGGAG;AAGAGG) |
6 | 0.1 |
IGF1 (intronic) |
Novel | Novel | Insulin-like growth factor I deficiency |
| chrX:147911368-147912629 (CCG) |
6 | 0 |
FMR1 (5′UTR) |
Known | Known | Fragile X syndrome |
| chrX:29802527-29803810 (ACACATATGTATACATGTAT;ACACATATGTATATATGTAT) |
6 | 0 |
IL1RAPL1 (intronic) |
Known | Novel | Mental retardation, X-linked |
1
Loci on the X chromosome were not included in the overall statistical comparisons for functional analysis. They were added here only for reference.
2
Frequency from 1,612 additional population controls from GTEx and the Mayo Clinic Biobank.