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Relevance to Autism

Heterozygous mutations in the MEIS2 gene, frequently in the form of 15q14 microdeletions, are responsible for cleft palate, cardiac defects, and mental retardation (CPCMR; OMIM 600987). A de novo in-frame deletion variant in the MEIS2 gene was identified in a female patient diagnosed with ASD in Louw et al., 2015. A de novo 15q14 microdeletion involving MEIS2 was observed in a patient presenting with autistic behavior in Shimojima et al., 2017. Douglas et al., 2018 reported four individuals with de novo predicted damaging missense variants in the MEIS2 gene; in addition to features resembling those observed in patients with 15q14 deletions, three of the individuals in Douglas et al., 2018 presented with autism or ASD.

Molecular Function

This gene encodes a homeobox protein belonging to the TALE ('three amino acid loop extension') family of homeodomain-containing proteins. TALE homeobox proteins are highly conserved transcription regulators, and several members have been shown to be essential contributors to developmental programs.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
MEIS2 involvement in cardiac development, cleft palate, and intellectual disability.
Cleft palate, cardiac defects, and mental retardat
ASD
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD
Support
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with develop...
ID, epilepsy/seizures
Microcephaly
Support
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability.
Cleft palate, cardiac defects, and mental retardat
ASD
Support
A 15q14 microdeletion involving MEIS2 identified in a patient with autism spectrum disorder.
Cleft palate, cardiac defects, and mental retardat
Autistic behavior
Support
Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia
SCZ
ID
Support
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
ASD
Support
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
ASD
Support
Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation
Childhood apraxia of speech
ASD, DD
Recent Recommendation
De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual ...
Cleft palate, cardiac defects, and mental retardat
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1028R001 
 inframe_deletion 
 c.324_326del 
 p.Ala109del 
 De novo 
 NA 
  
 GEN1028R002 
 missense_variant 
 c.956C>T 
 p.Thr319Ile 
 De novo 
 NA 
 Multiplex 
 GEN1028R003 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN1028R004 
 missense_variant 
 c.905C>T 
 p.Pro302Leu 
 De novo 
 NA 
  
 GEN1028R005 
 missense_variant 
 c.992G>A 
 p.Arg331Lys 
 De novo 
 NA 
  
 GEN1028R006 
 missense_variant 
 c.1004T>C 
 p.Val335Ala 
 De novo 
 NA 
  
 GEN1028R007 
 missense_variant 
 c.965A>T 
 p.Gln322Leu 
 De novo 
 NA 
  
 GEN1028R008 
 stop_gained 
 c.978G>A 
 p.Trp326Ter 
 De novo 
 NA 
  
 GEN1028R009 
 splice_site_variant 
 c.639+1G>A 
  
 De novo 
 NA 
  
 GEN1028R010 
 splice_site_variant 
 c.640-2A>G 
  
 De novo 
 NA 
  
 GEN1028R011 
 stop_gained 
 c.829C>T 
 p.Gln277Ter 
 De novo 
 NA 
  
 GEN1028R012 
 frameshift_variant 
 c.868dup 
 p.Ile290AsnfsTer40 
 De novo 
 NA 
  
 GEN1028R013 
 splice_site_variant 
 c.978-2A>G 
  
 De novo 
 NA 
  
 GEN1028R014 
 frameshift_variant 
 c.383del 
 p.Lys128SerfsTer19 
 De novo 
 NA 
  
 GEN1028R015 
 frameshift_variant 
 c.934_937del 
 p.Leu312ArgfsTer11 
 De novo 
 NA 
  
 GEN1028R016 
 missense_variant 
 c.998G>A 
 p.Arg333Lys 
 De novo 
 NA 
  
 GEN1028R017 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN1028R018 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN1028R019 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN1028R020 
 copy_number_loss 
  
  
 Unknown 
  
  
 GEN1028R021 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN1028R022 
 copy_number_loss 
  
  
 Unknown 
  
  
 GEN1028R023 
 copy_number_loss 
  
  
 Unknown 
  
  
 GEN1028R024 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN1028R025 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN1028R026 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN1028R027 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN1028R028 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN1028R029 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN1028R030 
 copy_number_loss 
  
  
 Unknown 
 Not maternal 
  
 GEN1028R031 
 translocation 
  
  
 De novo 
 NA 
  
 GEN1028R032 
 stop_gained 
 c.520C>T 
 p.Arg174Ter 
 De novo 
 NA 
  
 GEN1028R033 
 stop_gained 
 c.520C>T 
 p.Arg174Ter 
 De novo 
 NA 
  
 GEN1028R034 
 splice_site_variant 
 c.5-2A>G 
  
 Familial 
 Paternal 
  
 GEN1028R035 
 stop_gained 
 c.1099C>T 
 p.Gln367Ter 
 Unknown 
  
 Simplex 
 GEN1028R036 
 frameshift_variant 
 c.934_937del 
 p.Leu312ArgfsTer11 
 Unknown 
  
 Unknown 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 66
  construct
15
Duplication
 3
 
15
Deletion-Duplication
 2
 
15
Deletion
 1
 
15
Deletion-Duplication
 22
 
15
Duplication
 1
 

No Animal Model Data Available

 

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