Analysis of aCGH data from a discovery cohort of 90 adult ASD cases and a follow-up cohort of 26,574 patients, including 18,857 cases with NDD (3541 of those with ASD), demonstrated a statistically significant enrichment of SHOX microduplications in NDD cases (P=0.00036; OR=2.21), particularly in those with ASD (P=9.18E-07; OR=3.63), compared with 12,594 controls (Tropeano et al., 2016). A novel de novo predicted damaging missense variant in SHOX were observed in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014).
This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients.
Type of Disorder
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.