FRA7A_ZNF13
- Gene
- ZNF713
- Disease
- FRA7A
- Inheritance
- AD
- Classification
- Moderate
- Total Score
- 7
- Publications Reviewed
- 1
- Publication Span
- Last Updated
- 08/18/2025
- Curator(s)
- Macayla Weiner, Laurel Hiatt
Description
A CGG-repeat expansion at the folate-sensitive fragile site FRA7A lies in the first intron/5' region of ZNF713 and was reported in association with autistic spectrum disorder (ASD). One male proband had a maternally derived full expansion (>450 CGGs) with CpG island hypermethylation and reduced ZNF713 expression, and a second unrelated ASD family had three affected siblings carrying paternal FRA7A premutation alleles with partial/mosaic methylation, mitotic instability, and ZNF713 misregulation. Control data showed normal alleles of 5–22 repeats in 176 individuals and no additional FRA7A cases in >9,000 neurodevelopmental cytogenetic analyses. The authors noted that a firm ASD link was not yet established, but the dynamic mutation and functional dysregulation support a moderate locus-disease relationship.
Genetic evidence
Total: 7
| Singular Evidence | Probands | PMID:25196122 | 3 | Two unrelated ASD families were described: Family 7,792 had one male proband with a maternally derived FRA7A full CGG expansion (>450 repeats), CpG methylation, and reduced ZNF713 expression; Family TCAG0070 had three affected siblings carrying paternal FRA7A premutation alleles with partial/mosaic methylation, mitotic instability in one sibling, and ZNF713 dysregulation. |
| Statistics | Case-control data | PMID:25196122 | 4 | PCR sizing of 176 controls showed 14 normal alleles (5–22 CGG repeats) and no premutation-range alleles; no additional FRA7A cases were detected in >9,000 neurodevelopmental cytogenetic analyses. Controls were not phenotype-matched and the PCR assay could miss heterozygous full expansions, so support is imperfect. |
Experimental evidence
Total: 0
No experimental evidence details available.
Note: Maximum score caps apply at evidence type, category, and supercategory levels, so section totals may be lower than the raw sum of row scores.