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Relevance to Autism

Missense variants in the ZBTB20 gene were identified in eight patients with Primrose syndrome (MIM 259050), a condition characterized by increased growth of the brain and body height, intellectual disability, autism, and other behavioral concerns. Four of the Primrose syndrome patients that were identified with ZBTB20 missense variants also presented with autism (Cordeddu et al., 2014). ZBTB20 lies within the minimum region of overlap for 3q13.31 (del3q13.31) microdeletion syndrome (MIM 615433), a multisystem disorder characterized by increased postnatal growth, hypotonia, intellectual disability, disturbed behavior, and unusual facial features, as well as autism in some cases (Molin et al., 2012; Shuvarikov et al., 2013).

Molecular Function

May be a transcription factor that may be involved in hematopoiesis, oncogenesis, and immune responses. ZBTB20 has been shown to act as a cell-fate determinant for CA1 pyramidal neurons in the hippocampus (Xie et al., 2010; Ren et al., 2012).

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Mutations in ZBTB20 cause Primrose syndrome.
Primrose syndrome
ID, ASD
Support
Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort.
ASD
Support
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic...
3q13.31 microdeletion syndrome
DD, ASD
Support
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.
Primrose syndrome
ID, autistic behavior
Support
Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature.
Primrose syndrome
Support
Zbtb20 is essential for the specification of CA1 field identity in the developing hippocampus.
Support
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnose...
Multiple congenital anomalies
Support
Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome.
Primrose syndrome
DD, macrocephaly
Support
Zbtb20-induced CA1 pyramidal neuron development and area enlargement in the cerebral midline cortex of mice.
Support
Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.
Primrose syndrome
Support
Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.
Primrose syndrome
DD, ID, behavioral problems
Support
Hippocampus-like corticoneurogenesis induced by two isoforms of the BTB-zinc finger gene Zbtb20 in mice.
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Support
Lessons learned from additional research analyses of unsolved clinical exome cases.
DD, ID, ADHD
Support
Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.
3q13.31 microdeletion syndrome
ID, ASD
Support
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
ASD or autistic features, DD
ADHD, TS
Support
Expansion of the Primrose syndrome phenotype through the comparative analysis of two new case reports with ZBTB20 variants.
Primrose syndrome, DD
ASD
Support
Regulation of hippocampus-dependent memory by the zinc finger protein Zbtb20 in mature CA1 neurons.
Support
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
ASD
Recent Recommendation
Neurodevelopmental disorder-associated ZBTB20 gene variants affect dendritic and synaptic structure.
Recent Recommendation
Zbtb20 modulates the sequential generation of neuronal layers in developing cortex.
Recent Recommendation
Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes.
DD, ID
ASD, ADHD, TS

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN619R001 
 missense_variant 
 c.1768A>C 
 p.Lys590Gln 
 De novo 
 NA 
  
 GEN619R002 
 missense_variant 
 c.1771C>G 
 p.Gln591Glu 
 De novo 
 NA 
  
 GEN619R003 
 missense_variant 
 c.1787A>G 
 p.His596Arg 
 De novo 
 NA 
  
 GEN619R004 
 missense_variant 
 c.1802C>T 
 p.Thr601Ile 
 De novo 
 NA 
  
 GEN619R005 
 missense_variant 
 c.1805G>C 
 p.Gly602Ala 
 De novo 
 NA 
  
 GEN619R006 
 missense_variant 
 c.1811A>C 
 p.Lys604Thr 
 De novo 
 NA 
  
 GEN619R007 
 missense_variant 
 c.1861C>T 
 p.Leu621Phe 
 De novo 
 NA 
  
 GEN619R008 
 missense_variant 
 c.1876G>A 
 p.Val626Met 
 Unknown 
  
  
 GEN619R009 
 translocation 
  
  
 De novo 
 NA 
  
 GEN619R010 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN619R011 
 stop_gained 
 c.1723A>T 
 p.Lys575Ter 
 De novo 
 NA 
 Unknown 
 GEN619R012 
 stop_gained 
 c.1020C>G 
 p.Tyr340Ter 
 De novo 
 NA 
 Unknown 
 GEN619R013 
 missense_variant 
 c.286G>C 
 p.Glu96Gln 
 De novo 
 NA 
 Unknown 
 GEN619R014 
 intron_variant 
 c.-350+33132G>T 
  
 De novo 
 NA 
 Unknown 
 GEN619R015a 
 missense_variant 
 c.1847C>T 
 p.Ser616Phe 
 De novo 
 NA 
 Simplex 
 GEN619R015b 
 missense_variant 
 c.2221G>A 
 p.Gly741Arg 
 De novo 
 NA 
 Simplex 
 GEN619R016a 
 stop_gained 
  
 p.Arg2284Ter 
 De novo 
 NA 
  
 GEN619R016b 
 missense_variant 
  
 p.Ser2903Gly 
 De novo 
 NA 
  
 GEN619R017 
 missense_variant 
 c.1832G>C 
 p.Cys611Ser 
 De novo 
 NA 
  
 GEN619R018 
 intron_variant 
 c.-349-27829del 
  
  
  
 Unknown 
 GEN619R019 
 intron_variant 
 c.-309-27710G>A 
  
  
  
 Unknown 
 GEN619R020 
 inversion 
  
  
 De novo 
 NA 
  
 GEN619R021 
 translocation 
  
  
 De novo 
 NA 
  
 GEN619R022 
 missense_variant 
 1786C>T 
 p.His596Tyr 
 De novo 
 NA 
 Simplex 
 GEN619R023 
 missense_variant 
 c.1906T>C 
 p.Cys636Arg 
 De novo 
 NA 
 Simplex 
 GEN619R024 
 missense_variant 
 c.1837C>T 
 p.Arg613Cys 
 De novo 
 NA 
 Simplex 
 GEN619R025 
 missense_variant 
 c.1832G>A 
 p.Cys611Tyr 
 De novo 
 NA 
 Simplex 
 GEN619R026 
 frameshift_variant 
 c.*135del 
  
 De novo 
 NA 
  
 GEN619R027 
 missense_variant 
 c.1931C>T 
 p.Thr644Ile 
 De novo 
 NA 
  
 GEN619R028 
 missense_variant 
 c.1749C>G 
 p.Cys583Trp 
 De novo 
 NA 
  
 GEN619R029 
 missense_variant 
 c.1850T>C 
 p.Leu617Ser 
 De novo 
 NA 
  
 GEN619R030 
 missense_variant 
 c.1879A>G 
 p.Thr627Ala 
 De novo 
 NA 
  
 GEN619R031 
 missense_variant 
 c.1943C>T 
 p.Ser648Phe 
 De novo 
 NA 
  
 GEN619R032 
 missense_variant 
 c.1967A>G 
 p.His656Arg 
 De novo 
 NA 
  
 GEN619R033 
 splice_site_variant 
 c.-505-1G>A 
  
 Unknown 
  
 Multiplex 
 GEN619R034 
 missense_variant 
 c.1822T>C 
 p.Cys608Arg 
 De novo 
 NA 
  
 GEN619R035 
 missense_variant 
 c.1873A>G 
 p.Met625Val 
 Unknown 
 Not maternal 
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion
 1
 
3
Deletion
 2
 
3
Deletion
 1
 
3
Deletion-Duplication
 2
 
3
Deletion
 1
 
3
Deletion
 1
 
3
Deletion
 2
 
3
Deletion
 2
 
3
Deletion
 1
 
3
Deletion
 6
 
3
Deletion
 1
 
3
Deletion-Duplication
 17
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
CHD7 chromodomain helicase DNA binding protein 7 55636 Q6ZWF9 ChIP; MS
IP; MS
Engelen E , et al. 2011
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 ChIP-chip
Subtil-Rodrguez A , et al. 2013
ELAVL1 ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) 1994 Q15717 RNP IP
Abdelmohsen K , et al. 2009
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP
Ascano M Jr , et al. 2012
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1 3320 P07900 LUMIER with BACON
Taipale M , et al. 2012
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) 2908 F1D8N4 M2H
Ravasi T , et al. 2010
NSD1 nuclear receptor binding SET domain protein 1 64324 Q96L73 ChIP
Lucio-Eterovic AK , et al. 2010
PPARG peroxisome proliferator-activated receptor gamma 5468 P37231 M2H
Ravasi T , et al. 2010
CHD7 chromodomain helicase DNA binding protein 7 320790 A2AJK6 ChIP; MS
IP; MS
Engelen E , et al. 2011
Cntn4 contactin 4 269784 Q69Z26 ChIP-Seq; Gene microarray
Rasmussen MB , et al. 2014
Gad1 glutamate decarboxylase 1 (brain, 67kDa) 14415 P48318 ChIP-Seq; Gene microarray
Rasmussen MB , et al. 2014
Irf4 interferon regulatory factor 4 16364 Q64287 ELISA; qRT-PCR; ChIP; IP/WB
Chevrier S , et al. 2014
Nrxn1 neurexin 1 18189 Q9CS84 ChIP-Seq; Gene microarray
Rasmussen MB , et al. 2014
Nrxn3 neurexin III 18191 Q6P9K9 ChIP-Seq; Gene microarray
Rasmussen MB , et al. 2014
Scn2a sodium channel, voltage-gated, type II, alpha 1 110876 B1AWN6 ChIP-Seq; Gene microarray
Rasmussen MB , et al. 2014
Snap25 synaptosomal-associated protein 25 20614 P60879 ChIP-Seq; Gene microarray
Rasmussen MB , et al. 2014
TBR1 T-box brain gene 1 21375 Q64336 ChIP
Nielsen JV , et al. 2013
Prl prolactin 24683 B5DEM6 ChIP; Luciferase reporter assay
Cao D , et al. 2016

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