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Relevance to Autism

Clinical characterization of 15 patients from 14 unrelated families with megaconial type congenital muscular dystrophy caused by CHKB mutations found that 8/15 patients presented with autistic features/behavioral problems (Haliloglu et al., 2015). A homozygous frameshift variant in CHKB was previously identifed in a patient with megaconial type congenital muscular dystrophy and a diagnosis of autistic spectrum disorder (Quinlivan et al., 2013).

Molecular Function

The protein encoded by the CHKB gene catalyzes the first step in phosphatidylethanolamine biosynthesis and consequently plays as a key role in phospholipid biosynthesis. Homozygous or compound heterozygous mutations in this gene are responsible for megaconial type congenital muscular dystrophy (OMIM 602541).

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients.
Megaconial type congenital muscular dystrophy
DD, ID, autistic features
Support
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder.
ASD
Support
Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and patholo...
Megaconial type congenital muscular dystrophy
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN741R001 
 frameshift_variant;frameshift_variant 
 c.[611_612insC];[611_612insC] 
 p.[Thr205AsnfsTer5];[Thr205AsnfsTer5] 
  
  
 Simplex 
 GEN741R002 
 stop_gained;stop_gained 
 c.[922C>T];[922C>T] 
 p.[Gln308Ter];[Gln308Ter] 
  
  
 Multiplex 
 GEN741R003 
 missense_variant;missense_variant 
 c.[847G>A];[847G>A] 
 p.[Glu283Lys];[Glu283Lys] 
  
  
 Simplex 
 GEN741R004 
 missense_variant;missense_variant 
 c.[1130G>T];[1130G>T] 
 p.[Arg377Leu];[Arg377Leu] 
  
  
 Simplex 
 GEN741R005 
 inframe_deletion;inframe_deletion 
 c.[554_562del];[554_562del] 
 p.[Pro185_Trp187del];[Pro185_Trp187del] 
  
  
 Simplex 
 GEN741R006 
 splice_site_variant;splice_site_variant 
 c.[667+1G>A];[667+1G>A] 
  
  
  
 Simplex 
 GEN741R007 
 splice_site_variant;splice_site_variant 
 c.[667+1G>A];[667+1G>A] 
  
  
  
 Simplex 
 GEN741R008 
 splice_site_variant;splice_site_variant 
 c.[667+1G>A];[667+1G>A] 
  
  
  
 Simplex 
 GEN741R009 
 splice_site_variant;splice_site_variant 
 c.[1031+1G>A];[1031+1G>A] 
  
  
  
 Simplex 
 GEN741R010 
 splice_site_variant;splice_site_variant 
 c.[1031+1G>A];[1031+1G>A] 
  
  
  
 Simplex 
 GEN741R011 
 stop_gained;stop_gained 
 c.[922C>T];[922C>T] 
 p.[Gln308Ter];[Gln308Ter] 
  
  
 Simplex 
 GEN741R012 
 splice_site_variant;splice_site_variant 
 c.[1031+1G>A];[1031+1G>A] 
  
  
  
 Simplex 
 GEN741R013 
 stop_gained 
 c.475C>T 
 p.Arg159Ter 
  
  
 Simplex 
 GEN741R014 
 splice_site_variant 
 c.1031+1G>A 
  
  
  
 Simplex 
 GEN741R015 
 frameshift_variant;frameshift_variant 
 c.[1007_1010delAGA];[1007_1010delAGA] 
  
  
  
 Simplex 
 GEN741R016 
 frameshift_variant;frameshift_variant 
 c.[852_859del];[852_859del] 
 p.[Trp284Ter];[Trp284Ter] 
 Familial 
 Both parents 
 Simplex 
 GEN741R017 
 missense_variant 
 c.722A>G 
 p.Asn241Ser 
  
  
  
 GEN741R018 
 missense_variant 
 c.881C>G 
 p.Pro294Arg 
  
  
  
 GEN741R019 
 missense_variant 
 c.722A>G 
 p.Asn241Ser 
  
  
  
 GEN741R020 
 missense_variant 
 c.1010A>G 
 p.Asp337Gly 
 De novo 
  
 Simplex 
 GEN741R021 
 frameshift_variant 
 delCAAA 
  
 Familial 
  
 Multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
22
Duplication
 1
 
22
Duplication
 1
 
22
Deletion-Duplication
 9
 
22
Deletion
 1
 
22
Deletion-Duplication
 16
 
22
Deletion-Duplication
 21
 
22
Duplication
 24
 
22
Deletion-Duplication
 54
 

No Animal Model Data Available

No PIN Data Available
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