Table 4.

Microdeletions/microinsertions and short direct repeats in the FAA gene

Microdeletion						Sequence

Lowercase indicates intronic sequence. Boldface type indicates repeats. The deletion hot spot consensus sequence (CCTG/CAGG) is underlined; MboII restriction site is indicated. The deleted/inserted sequence is boxed (for deletions in short direct repeats, the most 3′ nucleotide is arbitrarily assigned). 

^*This deletion is denoted by the 5′ intronic direct repeat for simplicity. 

^†Nonpathogenic variant.