Overview of repeats

In a study by Pagnamenta and colleagues (Pagnamenta et al., 2021), it was reported that a bi-allelic 10-bp repeat expansion (GGCGCGGAGC) in VWA1 gene exon 1 was present in 14 out of 15 families with hereditary motor neuropathy. The mean age of onset was 2.0 ± 1.4 years. In the gnomAD database, all individuals with the expanded allele to three repeats (89 out of 140,632) were heterozygous. Authors suggested that shorter allele (1 repeat) also leads to a premature stop codon and may represent a second disease-causing founder mutation at the same locus (71/136,000 heterozygous alleles were present in CentroMD database, but no homozygous were found).

→ View STRipy's population-wide repeat data for VWA1 locus