HELP     Sign In
Search

Relevance to Autism

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).

Molecular Function

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.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN821R001 
 missense_variant 
 c.518G>A 
 p.Arg173His 
 De novo 
 NA 
 Simplex 
 GEN821R002 
 copy_number_gain 
  
  
 Unknown 
  
  
 GEN821R003 
 copy_number_gain 
  
  
 Unknown 
  
  
 GEN821R004 
 copy_number_gain 
  
  
 Familial 
 Paternal 
  
 GEN821R005 
 copy_number_gain 
  
  
 Unknown 
  
  
 GEN821R006 
 copy_number_gain 
  
  
 Familial 
 Paternal 
  
 GEN821R007 
 copy_number_gain 
  
  
 Unknown 
  
  
 GEN821R008 
 copy_number_gain 
  
  
 Unknown 
  
  
 GEN821R009 
 copy_number_gain 
  
  
 Familial 
 Paternal 
  
 GEN821R010 
 copy_number_gain 
  
  
 Familial 
 Maternal 
  
 GEN821R011 
 copy_number_gain 
  
  
 Unknown 
  
  
 GEN821R012 
 copy_number_gain 
  
  
 Unknown 
  
  
 GEN821R013 
 copy_number_gain 
  
  
 Familial 
 Maternal 
  
 GEN821R014 
 copy_number_gain 
  
  
 Familial 
 Paternal 
  
 GEN821R015 
 copy_number_gain 
  
  
 Familial 
 Paternal 
  
 GEN821R016 
 copy_number_gain 
  
  
 De novo 
 NA 
  
 GEN821R017 
 copy_number_gain 
  
  
 Unknown 
  
  
 GEN821R018 
 copy_number_gain 
  
  
 Familial 
 Maternal 
  
 GEN821R019 
 copy_number_gain 
  
  
 Unknown 
  
  
 GEN821R020 
 copy_number_gain 
  
  
 Unknown 
  
  
 GEN821R021 
 copy_number_gain 
  
  
 Familial 
 Maternal 
  
 GEN821R022 
 copy_number_gain 
  
  
 Unknown 
  
  
 GEN821R023 
 copy_number_gain 
  
  
 Unknown 
 Not maternal 
  
 GEN821R024 
 copy_number_gain 
  
  
 Familial 
 Paternal 
  
 GEN821R025 
 copy_number_gain 
  
  
 Familial 
 Maternal 
  
 GEN821R026 
 copy_number_gain 
  
  
 Familial 
 Maternal 
  
 GEN821R027 
 copy_number_gain 
  
  
 Unknown 
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion-Duplication
 40
 
X
Deletion
 1
 
X
Deletion
 4
 
X
Deletion-Duplication
 1
 
X
Deletion
 1
 
X
Duplication
 1
 
X
Deletion
 2
 
X
Deletion
 1
 
X
Duplication
 4
 
X
Deletion
 5
 
X
Duplication
 5
 
X
Deletion-Duplication
 18
 
X/Y
Duplication
 5
 
X/Y
Duplication
 2
 
Y
Duplication
 7
 

No Animal Model Data Available

No PIN Data Available
HELP
Copyright © 2017 MindSpec, Inc.