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Relevance to Autism

Rare inherited loss-of-function and damaging missense variants in the POMT1 gene were identified in ASD probands from the Simons Simplex Collection in Krumm et al., 2015; targeted sequencing of 536 Chinese ASD probands and 1457 Chinese controls in Guo et al., 2017 identified additional rare inherited variants in this gene in ASD probands. Subsequent Transmission and De Novo Association (TADA) analysis In Guo et al., 2017 identified POMT1 as an ASD candidate gene with a PTADA of 0.007923 in the Chinese ASD case-control cohort and a PTADA of 0.009218 in a combined cohort of Chinese ASD probands and controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium.

Molecular Function

The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Biallelic mutations in the POMT1 gene are associated with muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 (OMIM 236670), muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 (OMIM 613155), and muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 (OMIM 609308).

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Excess of rare, inherited truncating mutations in autism.
ASD
Support
DD, ID
Recent Recommendation
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.
ASD
Recent Recommendation
A multidimensional precision medicine approach identifies an autism subtype characterized by dyslipidemia
ASD
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN942R001 
 missense_variant 
 c.428A>T 
 p.Glu143Val 
 Familial 
 Paternal 
 Simplex 
 GEN942R002 
 frameshift_variant 
 c.578_579del 
 p.Thr193ArgfsTer138 
 Familial 
 Maternal 
 Simplex 
 GEN942R003 
 missense_variant 
 c.817G>A 
 p.Asp273Asn 
 Familial 
 Paternal 
 Simplex 
 GEN942R004 
 missense_variant 
 c.1150G>A 
 p.Gly384Ser 
 Familial 
 Maternal 
 Simplex 
 GEN942R005 
 missense_variant 
 c.1892C>T 
 p.Pro631Leu 
 Familial 
 Maternal 
 Simplex 
 GEN942R006 
 frameshift_variant 
 c.2096_2097insG 
 p.Tyr699Ter 
 Familial 
 Paternal 
 Simplex 
 GEN942R007 
 missense_variant 
 c.2168G>A 
 p.Arg723Gln 
 Familial 
 Maternal 
 Simplex 
 GEN942R008 
 frameshift_variant 
 c.2101dup 
 p.Asp701GlyfsTer8 
 Familial 
 Maternal 
 Simplex 
 GEN942R009 
 missense_variant 
 c.1444C>T 
 p.His482Tyr 
 De novo 
  
  
 GEN942R010 
 splice_site_variant 
 c.986+1G>A 
  
 Familial 
  
  
 GEN942R011 
 missense_variant 
 c.35C>T 
 p.Thr12Met 
 Familial 
  
  
 GEN942R012 
 missense_variant 
 c.946C>T 
 p.Pro316Ser 
 Familial 
  
  
 GEN942R013 
 missense_variant 
 c.2114C>T 
 p.Ser705Leu 
 Familial 
  
  
 GEN942R014 
 intron_variant 
 c.699+52C>T 
  
 Familial 
  
  
 GEN942R015 
 frameshift_variant 
 c.903del 
 p.Phe301LeufsTer7 
 Familial 
  
  
 GEN942R016 
 stop_gained 
 c.1792C>T 
 p.Arg598Ter 
 Familial 
  
  
 GEN942R017a 
 missense_variant 
 c.83T>C 
 p.Leu28Pro 
 Familial 
 Both parents 
 Multiplex 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
9
Duplication
 1
 
9
Deletion
 1
 
9
Duplication
 1
 
9
Deletion
 1
 
9
Duplication
 1
 
9
Deletion-Duplication
 10
 
9
N/A
 2
 
9
Duplication
 2
 
9
Deletion-Duplication
 9
 

No Animal Model Data Available

 

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