ZBTB20
Homo sapiens
Gene Name: Zinc finger and BTB domain containing 20
Aliases: RP11-553L6.5, DPZF, HOF, ODA-8S, ZNF288
Chromosome No: 3
Chromosome Band: 3q13.31
Genetic Category: Multigenic CNV-Syndromic-Rare single gene variant/multigenic CNV-Rare single gene variant
Associated Syndrome(s): 3q13.31 microdeletion syndrome,Primrose syndrome
Aliases: RP11-553L6.5, DPZF, HOF, ODA-8S, ZNF288
Chromosome No: 3
Chromosome Band: 3q13.31
Genetic Category: Multigenic CNV-Syndromic-Rare single gene variant/multigenic CNV-Rare single gene variant
Associated Syndrome(s): 3q13.31 microdeletion syndrome,Primrose syndrome
Summary Statistics:
ASD Reports: 31
Recent Reports: 3
Annotated variants: 71
Associated CNVs: 12
Evidence score: 4
ASD Reports: 31
Recent Reports: 3
Annotated variants: 71
Associated CNVs: 12
Evidence score: 4
| Associated Disorders: |
|
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
Zbtb20 is essential for the specification of CA1 field identity in the developing hippocampus.
Support
Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinic
ASD, ID
DD
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
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability
ID
Marfanoid habitus
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
Primrose syndrome: Characterization of the phenotype in 42 patients
Primrose syndrome
ASD, ADHD
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
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.
Primrose syndrome
ASD, 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
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
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
Rare variants in the outcome of social skills group training for autism
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
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
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.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN619R011
stop_gained
c.1723A>T
p.Lys575Ter
De novo
Unknown
GEN619R012
stop_gained
c.1020C>G
p.Tyr340Ter
De novo
Unknown
GEN619R013
missense_variant
c.286G>C
p.Glu96Gln
De novo
Unknown
GEN619R014
intron_variant
c.-350+33132G>T
De novo
Unknown
GEN619R048
frameshift_variant
c.172_178delinsAA
p.Ser58AsnfsTer7
De novo
Simplex
Common
No Common Variants Available
