FOXL2 Repeat Expansion Testing

Description

Pathogenic GCN repeat expansions in the FOXL2 gene have been associated with autosomal dominant blepharophimosis, ptosis, and epicanthus inversus syndrome type II (BPES II).

Pathogenicity is dependent upon GCN repeat length according to the following ranges 1-2:

Normal Alleles

Mutable Normal Alleles

Intermediate or Uncertain Alleles

Reduced Penetrance Alleles

Full Penetrance Alleles

14

-

15-18

-

19-24*

*19 repeats have been associated with autosomal recessive inheritance 3.

Tests That Analyze FOXL2 Repeats