STRs database » ZFHX3 locus
Gene ZFHX3
Location Coding in 16q22.2-q22.3
Reference region chr16:72787694-72787757 (hg38)
chr16:72821593-72821656 (hg19)
chr16:78605502-78605568 (hs1)
Repeat unit GGC
Repeat type Standard
Distribution of repeats in a superpopulation
Overview of repeats

In a study by Figueroa and colleagues (Figueroa et al., 2023 [Preprint]), an expansion of GGC repeats in a region of exon 10 of the ZFHX3 gene was identified in patients with spinocerebellar ataxia type 4 (SCA4). This expansion exceeded 40 repeats, compared to the normal repeat size, which was noted to be typically 21. The preprint, however, does not provide information about the range of repeats in control subjects, the age of onset in affected individuals, or any potential correlation between the repeat lengths and the onset of the condition.

→ View STRipy's population-wide repeat data for ZFHX3 locus

Disease(s) and range of repeats
Disease Onset Inheritance Normal Intermediate Pathogenic
Spinocerebellar ataxia 4 (SCA4) Adult Autosomal dominant 21 - ≥41