STRs database » FOXL2 locus
Gene FOXL2
Location Coding in 3q22.3
Reference region chr3:138946020-138946062 (hg38)
chr3:138664862-138664904 (hg19)
chr3:141687012-141687054 (hs1)
Repeat unit GCN
Repeat type Imperfect GCN
Distribution of repeats in a superpopulation
Overview of repeats

A polyalanine expansion in the FOXL2 gene was discovered by Nallathambi et al. (2007) in one Indian family diagnosed with the blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). The allele is highly conserved and has 14 repeats of alanine. They found a homozygous 5 repeat expansion in two individuals of the family that resulted in a stretch of 19 residues of alanine long, demonstrating recessive allele behaviour (Nallathambi et al., 2007). However, other research has shown patients with BPES who have heterozygous alanine expansions and also longer, such as alleles with 24 alanine repeats present (De Baere et al., 2001; De Baere et al., 2003).

→ View STRipy's population-wide repeat data for FOXL2 locus

Disease(s) and range of repeats
Disease Onset Inheritance Normal Intermediate Pathogenic
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) Paediatric Autosomal dominant 14 - ≥19