Overview of repeats

Polyalanine expansions in the SOX3 gene have been found in one patient who was diagnosed with X-linked mental retardation with isolated growth hormone (XLMR) (Laumonnier et al., 2002). That patient had 11 additional alanines in the tract, resulting in 26 repeats long allele (Laumonnier et al., 2002).
In addition, insertion of seven alanines (resulting a 22 alanine allele) have been found in three brothers who were diagnosed with X-linked hypopituitarism, but did not have mental retardation (Woods et al., 2005).

→ View STRipy's population-wide repeat data for SOX3 locus