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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
 GEN741R001a 
 frameshift_variant 
 c.611dup 
 p.Thr205AsnfsTer5 
  
 Both parents 
 Simplex 
 GEN741R002a 
 stop_gained 
 c.922C>T 
 p.Gln308Ter 
  
 Both parents 
 Multiplex 
 GEN741R003a 
 missense_variant 
 c.847G>A 
 p.Glu283Lys 
  
 Both parents 
 Simplex 
 GEN741R004a 
 missense_variant 
 c.1130G>T 
 p.Arg377Leu 
  
 Both parents 
 Simplex 
 GEN741R005a 
 inframe_deletion 
 c.554_562del 
 p.Pro185_Trp187del 
  
 Both parents 
 Simplex 
 GEN741R006a 
 splice_site_variant 
 c.667+1G>A 
  
  
 Both parents 
 Simplex 
 GEN741R007a 
 splice_site_variant 
 c.667+1G>A 
  
  
 Both parents 
 Simplex 
 GEN741R008a 
 splice_site_variant 
 c.668G>A 
 p.Gly223Asp 
  
 Both parents 
 Simplex 
 GEN741R009a 
 splice_site_variant 
 c.1031+1G>A 
  
  
 Both parents 
 Simplex 
 GEN741R010a 
 splice_site_variant 
 c.1031+1G>A 
  
  
 Both parents 
 Simplex 
 GEN741R011a 
 stop_gained 
 c.922C>T 
 p.Gln308Ter 
  
 Both parents 
 Simplex 
 GEN741R012a 
 splice_site_variant 
 c.1031+1G>A 
  
  
 Both parents 
 Simplex 
 GEN741R013 
 stop_gained 
 c.475C>T 
 p.Arg159Ter 
  
  
 Simplex 
 GEN741R014 
 splice_site_variant 
 c.1031+1G>A 
  
  
  
 Simplex 
 GEN741R015a 
 frameshift_variant 
 c.1007_1010del 
 p.Glu336ValfsTer4 
  
 Both parents 
 Simplex 
 GEN741R016a 
 frameshift_variant 
 c.852_859del 
 p.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 
 NA 
 Simplex 
 GEN741R021 
 frameshift_variant 
 c.567_570del 
 p.Phe189LeufsTer7 
 Familial 
  
 Multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
22
Duplication
 1
 
22
Duplication
 2
 
22
Deletion-Duplication
 9
 
22
Deletion
 2
 
22
Deletion-Duplication
 16
 
22
Deletion-Duplication
 22
 
22
Duplication
 24
 
22
Deletion-Duplication
 58
 

No Animal Model Data Available

No PIN Data Available
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