HELP     Sign In
Search

Relevance to Autism

An analysis of 2,377 families from the Simons Simplex Collection revealed statistically significant over-transmission of private likely gene-disruptive variants in the LZTR1 gene to ASD probands (6 inherited CNVs/SNVs in probands compared to none in unaffected siblings; inherited p-value=0.03) (Krumm et al., 2015).

Molecular Function

Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the protein encoded by the LZTR1 gene subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome. Mutations in the LZTR1 gene are responsible for autosomal-dominant and autosomal-recessive forms of Noonan syndrome (Yamamoto et al., 2015; Johnston et al., 2018; Pagnamenta et al., 2019).

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Excess of rare, inherited truncating mutations in autism.
ASD
Support
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
Noonan syndrome 10
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder.
ASD
Support
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.
Noonan syndrome 2, Noonan syndrome 10
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
ID
Support
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
ASD
Support
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
Noonan syndrome 2
Support
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
ASD
Recent Recommendation
An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN730R001 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN730R002 
 stop_gained 
 c.1018C>T 
 p.Arg340Ter 
 Familial 
 Maternal 
 Simplex 
 GEN730R003 
 frameshift_variant 
 c.1394_1395insT 
 p.Ala465fs 
 Familial 
 Paternal 
 Simplex 
 GEN730R004 
 splice_site_variant 
 G>A 
 p.? 
 Familial 
 Maternal 
 Simplex 
 GEN730R005 
 stop_gained 
 c.180C>A 
 p.Cys60Ter 
 Familial 
 Paternal 
 Simplex 
 GEN730R006 
 frameshift_variant 
 c.2267dupT 
 p.Leu756fs 
 Familial 
 Maternal 
 Simplex 
 GEN730R007 
 missense_variant 
 c.1988G>T 
 p.Gly663Val 
 De novo 
  
 Simplex 
 GEN730R008 
 missense_variant 
 c.850C>T 
 p.Arg284Cys 
 De novo 
  
 Simplex 
 GEN730R009 
 frameshift_variant 
 c.772delT 
 p.Phe258fs 
 Familial 
 Maternal 
 Multi-generational 
 GEN730R010 
 frameshift_variant 
 c.2105delA 
 p.Glu702fs 
 Familial 
 Maternal 
 Simplex 
 GEN730R011 
 frameshift_variant 
 c.391dupT 
 p.Phe131fs 
 Familial 
 Maternal 
 Simplex 
 GEN730R012 
 missense_variant 
 c.548A>T 
 p.Tyr183Phe 
 Familial 
 Paternal 
 Simplex 
 GEN730R013 
 missense_variant 
 c.2471T>C 
 p.Leu824Pro 
 Familial 
 Paternal 
 Simplex 
 GEN730R014 
 missense_variant 
 c.2306C>T 
 p.Thr769Met 
 Familial 
 Maternal 
 Simplex 
 GEN730R015 
 splice_site_variant 
 T>C 
 p.? 
 Familial 
 Maternal 
 Multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
22
Duplication
 5
 
22
Duplication
 1
 
22
Duplication
 7
  construct
22
Duplication
 1
 
22
Deletion-Duplication
 81
  construct
22
Deletion-Duplication
 11
 
22
Deletion
 5
 
22
Duplication
 1
 

No Animal Model Data Available

 

No Interactions Available
HELP
Copyright © 2017 MindSpec, Inc.