STRs database » SOX3 locus
Gene SOX3
Location Coding in Xq27.1
Reference region chrX:140504316-140504361 (hg38)
chrX:139586481-139586526 (hg19)
Repeat unit GCN
Repeat type Imperfect GCN
Distribution of repeats in a superpopulation
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

Disease(s) and range of repeats
Disease Onset Inheritance Normal Intermediate Pathogenic
X-linked mental retardation with isolated growth hormone (XLMR) Paediatric X-linked recessive 15 - ≥26
X-linked panhypopituitarism (PHPX) Paediatric X-linked recessive 15 - ≥22