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Relevance to Autism

A rare, non-synonymous SNP in the HNRNPH2 gene was first identified in an individual with autism in Piton et al., 2011. Six unrelated females with a common neurodevelopmental phenotype involving developmental delay/intellectual disability were found to have de novo predicted deleterious missense variants in the HNRNPH2 gene; three of these six female patients were diagnosed with ASD (Bain et al., 2016).

Molecular Function

This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that binds to RNAs.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
ASD
SCZ
Support
Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2
Mental retardation, X-linked, syndromic, Bain type
DD, ID, epilepsy/seizures, stereotypy
Support
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
NDD
DD, epilepsy/seizures
Support
Whole-genome sequencing analysis of Japanese autism spectrum disorder trios
ASD
DD, ID, epilepsy/seizures
Support
Two additional males with X-linked, syndromic mental retardation carry de novo mutations in HNRNPH2.
Mental retardation, X-linked, syndromic, Bain type
Support
Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability
DD, ID
Support
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
DD
Support
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy
ASD, DD, epilepsy/seizures
Support
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder
DD/ID, Mental retardation, X-linked, syndromic, Ba
ASD, ADHD, epilepsy/seizures
Support
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications
Epilepsy/seizures
Support
Bain type of X-linked syndromic mental retardation in boys
Mental retardation, X-linked, syndromic, Bain type
DD
Support
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center
DD, ID, Afs
Support
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
ASD
Support
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
ASD
Support
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males
DD, ID
ASD or autistic behavior, stereotypy, epilepsy/sei
Support
Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype
Mental retardation, X-linked, syndromic, Bain type
DD, ID, stereotypy
Support
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
ASD
Highly Cited
Heterogeneous nuclear ribonucleoproteins H, H', and F are members of a ubiquitously expressed subfamily of related but distinct proteins encoded by...
Recent Recommendation
Intellectual developmental disorder, X-linked synd
Recent Recommendation
Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.
DD, ID
ASD, epilepsy/seizures, ADHD
Recent Recommendation
A UV-responsive internal ribosome entry site enhances serine hydroxymethyltransferase 1 expression for DNA damage repair.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN121R001 
 missense_variant 
 c.1188G>C 
 p.Met396Ile 
 Familial 
 Maternal 
  
 GEN121R002 
 missense_variant 
 c.616C>T 
 p.Arg206Trp 
 De novo 
  
  
 GEN121R003 
 missense_variant 
 c.616C>T 
 p.Arg206Trp 
 De novo 
  
  
 GEN121R004 
 missense_variant 
 c.617G>A 
 p.Arg206Gln 
 De novo 
  
  
 GEN121R005 
 missense_variant 
 c.626C>T 
 p.Pro209Leu 
 De novo 
  
  
 GEN121R006 
 missense_variant 
 c.616C>T 
 p.Arg206Trp 
 De novo 
  
  
 GEN121R007 
 missense_variant 
 c.616C>T 
 p.Arg206Trp 
 De novo 
  
  
 GEN121R008 
 missense_variant 
 c.422T>A 
 p.Met141Lys 
 De novo 
  
 Simplex 
 GEN121R009 
 missense_variant 
 c.616C>T 
 p.Arg206Trp 
 De novo 
  
  
 GEN121R010 
 missense_variant 
 c.340C>T 
 p.Arg114Trp 
 De novo 
  
  
 GEN121R011 
 missense_variant 
 c.85C>T 
 p.Arg29Cys 
 De novo 
  
 Unknown 
 GEN121R012 
 missense_variant 
 c.340C>T 
 p.Arg114Trp 
 De novo 
  
  
 GEN121R013 
 missense_variant 
 c.340C>T 
 p.Arg114Trp 
 De novo 
  
  
 GEN121R014 
 missense_variant 
 c.616C>T 
 p.Arg206Trp 
 De novo 
  
  
 GEN121R015 
 missense_variant 
 c.616C>T 
 p.Arg206Trp 
 De novo 
  
  
 GEN121R016 
 missense_variant 
 c.616C>T 
 p.Arg206Trp 
 De novo 
  
  
 GEN121R017 
 missense_variant 
 c.616C>T 
 p.Arg206Trp 
 De novo 
  
  
 GEN121R018 
 missense_variant 
 c.616C>T 
 p.Arg206Trp 
 De novo 
  
  
 GEN121R019 
 missense_variant 
 c.616C>T 
 p.Arg206Trp 
 De novo 
  
  
 GEN121R020 
 missense_variant 
 c.616C>T 
 p.Arg206Trp 
 De novo 
  
  
 GEN121R021 
 missense_variant 
 c.616C>T 
 p.Arg206Trp 
 De novo 
  
  
 GEN121R022 
 missense_variant 
 c.616C>T 
 p.Arg206Trp 
 De novo 
  
  
 GEN121R023 
 missense_variant 
 c.616C>T 
 p.Arg206Trp 
 De novo 
  
  
 GEN121R024 
 missense_variant 
 c.616C>T 
 p.Arg206Trp 
 De novo 
  
  
 GEN121R025 
 missense_variant 
 c.616C>T 
 p.Arg206Trp 
 De novo 
  
  
 GEN121R026 
 missense_variant 
 c.616C>T 
 p.Arg206Trp 
 De novo 
  
  
 GEN121R027 
 missense_variant 
 c.616C>T 
 p.Arg206Trp 
 De novo 
  
  
 GEN121R028 
 missense_variant 
 c.616C>T 
 p.Arg206Trp 
 De novo 
  
  
 GEN121R029 
 missense_variant 
 c.616C>T 
 p.Arg206Trp 
 De novo 
  
  
 GEN121R030 
 missense_variant 
 c.616C>T 
 p.Arg206Trp 
 De novo 
  
  
 GEN121R031 
 missense_variant 
 c.616C>T 
 p.Arg206Trp 
 De novo 
  
  
 GEN121R032 
 missense_variant 
 c.616C>G 
 p.Arg206Gly 
 De novo 
  
  
 GEN121R033 
 missense_variant 
 c.617G>A 
 p.Arg206Gln 
 De novo 
  
  
 GEN121R034 
 missense_variant 
 c.617G>A 
 p.Arg206Gln 
 De novo 
  
  
 GEN121R035 
 missense_variant 
 c.617G>A 
 p.Arg206Gln 
 De novo 
  
  
 GEN121R036 
 missense_variant 
 c.617G>A 
 p.Arg206Gln 
 De novo 
  
  
 GEN121R037 
 missense_variant 
 c.617G>A 
 p.Arg206Gln 
 De novo 
  
  
 GEN121R038 
 missense_variant 
 c.617G>T 
 p.Arg206Leu 
 De novo 
  
  
 GEN121R039 
 missense_variant 
 c.626C>T 
 p.Pro209Leu 
 De novo 
  
  
 GEN121R040 
 missense_variant 
 c.629A>G 
 p.Tyr210Cys 
 De novo 
  
  
 GEN121R041 
 missense_variant 
 c.634A>G 
 p.Arg212Gly 
 De novo 
  
  
 GEN121R042 
 missense_variant 
 c.635G>C 
 p.Arg212Thr 
 De novo 
  
  
 GEN121R043 
 missense_variant 
 c.638C>T 
 p.Pro213Leu 
 De novo 
  
  
 GEN121R044 
 missense_variant 
 c.1019A>T 
 p.Asp340Val 
 De novo 
  
  
 GEN121R045 
 missense_variant 
 c.616C>T 
 p.Arg206Trp 
 De novo 
  
  
 GEN121R046 
 missense_variant 
 c.617G>A 
 p.Ala206Gln 
 De novo 
  
  
 GEN121R047 
 missense_variant 
 c.617G>A 
 p.Arg206Gln 
 Unknown 
  
  
 GEN121R048 
 missense_variant 
 c.616C>T 
 p.Ala206Trp 
 De novo (germline mosaicism) 
  
 Multiplex 
 GEN121R049 
 missense_variant 
 c.617G>T 
 p.Arg206Leu 
 De novo 
  
 Simplex 
 GEN121R050 
 missense_variant 
 c.422T>A 
 p.Met141Lys 
 De novo 
  
  
 GEN121R051 
 missense_variant 
 c.616C>T 
 p.Ala206Trp 
 De novo 
  
  
 GEN121R052 
 missense_variant 
 c.616C>T 
 p.Ala206Trp 
 De novo 
  
  
 GEN121R053 
 missense_variant 
 c.616C>T 
 p.Ala206Trp 
 De novo 
  
  
 GEN121R054 
 missense_variant 
 c.616C>T 
 p.Ala206Trp 
 De novo 
  
  
 GEN121R055 
 missense_variant 
 c.616C>T 
 p.Arg206Trp 
 De novo 
  
  
 GEN121R056 
 missense_variant 
 c.616C>T 
 p.Arg206Trp 
 De novo 
  
  
 GEN121R057 
 missense_variant 
 c.617G>A 
 p.Arg206Gln 
 De novo 
  
  
 GEN121R058 
 missense_variant 
 c.635G>C 
 p.Arg212Thr 
 De novo 
  
  
 GEN121R059 
 missense_variant 
 c.629A>G 
 p.Tyr210Cys 
 Unknown 
  
  
 GEN121R060 
 missense_variant 
 c.629A>G 
 p.Tyr210Cys 
 De novo 
  
  
 GEN121R061 
 missense_variant 
 c.583T>C 
 p.Tyr195His 
 Unknown 
  
  
 GEN121R062 
 missense_variant 
 c.85C>T 
 p.Arg29Cys 
 De novo 
  
 Simplex 
 GEN121R063 
 missense_variant 
 c.340C>T 
 p.Arg114Trp 
 De novo 
  
 Simplex 
 GEN121R064 
 missense_variant 
 c.340C>T 
 p.Arg114Trp 
 De novo 
  
 Simplex 
 GEN121R065 
 stop_gained 
 c.595C>T 
 p.Arg199Ter 
 Unknown 
  
  
 GEN121R066 
 frameshift_variant 
 c.918_919dup 
 p.Asn307IlefsTer10 
 Familial 
 Maternal 
  
 GEN121R067 
 frameshift_variant 
 c.1110dup 
 p.Ala371CysfsTer24 
 Familial 
 Maternal 
  
 GEN121R068 
 stop_gained 
 c.562C>T 
 p.Arg188Ter 
 De novo 
  
 Multiplex (monozygotic twins) 
 GEN121R069 
 missense_variant 
 c.616C>T 
 p.Arg206Trp 
 De novo 
  
 Simplex 
 GEN121R070 
 missense_variant 
 c.629A>G 
 p.Tyr210Cys 
 De novo 
  
  
 GEN121R071 
 missense_variant 
 c.616C>T 
 p.Arg206Trp 
 De novo 
  
  
 GEN121R072 
 missense_variant 
 c.422T>A 
 p.Met141Lys 
 De novo 
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion
 1
 
X
Duplication
 1
 
X
Deletion-Duplication
 22
 
X
Deletion
 2
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Duplication
 9
 
X
Duplication
 3
 
X
Deletion-Duplication
 2
 
X
Deletion
 1
 

No Animal Model Data Available

 

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