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11q21-q22.1CNV Type: Deletion-Duplication


Largest CNV size: 4160315 bp

Statistics Box:
Number of Reports: 2



Summary Information

Overlapping CNVs within this region containing the CNTN5 gene were identified in two separate pedigrees with at least one affected family member presented with ASD in Mercati et al., 2016.

Additional Locus Information

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders.
Deletion-Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 kushima_18_ASD_discovery_cases
 Individuals predominantly recruited from the middle of Honshu Island (Japan)
 1108
 Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
 Median age, 19 years
 78.0% Male
 2649155
 1
 0
 1
 mercati_16_ASD_replication_cases
 Additional ASD probands from families with CNTN5 CNVs
 2
 Cases diagnosed with ASD based on clinical expert assessment including ADI-R with or without ADOS. Intellectual quotient measured using age-appropriate Wechsler scale or Raven's Standard Progressive Matrices.
 Range, 6-32 yrs.
 Female
 4160315
 1
 4
 5

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 kushima_18_ASD/SCZ_discovery_controls
 Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
 2095
 Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
 Median age, 37 years
 52.0% Male
 0
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 kushima_18_ASD_discovery_cases
  Japanese
 aCGH
  NimbleGen 720K, Agilent 400K
 FASST2
 Nexus Copy Number v.9.0
 N/A
 mercati_16_ASD_replication_cases
  N/A
 aCGH
  Agilent 180K
 
 
 FISH

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  kushima_18_ASD/SCZ_discovery_controls
  Japanese
  aCGH
  NimbleGen 720K, Agilent 400K
  FASST2
  Nexus Copy Number v.9.0
  N/A

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  kushima_18_ASD_discovery_cases-caseASD0021
 26 yrs.
 M
 ASD, ID
 Developmental milestones: motor delay. Behavioral/psychiatric evaluation: sensory hypersensitivity, psychiatric symptoms (delusions, hallucination). Family history: negative.
 Intellectual disability (IQ < 70)
 96535656
 99184810
  2649155
 GRCh38
 Deletion
 N/A
  mercati_16_ASD_replication_cases-probandAU-DIJ-001
 32 yrs.
 F
 ASD and ID
 Case diagnosed with ASD based on ADI-R assessment at age of 32 years and meeting DSM-5 criteria. ADI-R evaluation results: social domain score of 13 (cut-off of 10); communication domain scores of 13-7 (verbal cut-off of 8, nonverbal cutoff of 7); repetitive domain score of 4 (cut-off of 3). Case presents with abnormal hypersensitivity to sound. Birth/neonatal history: normal course of pregnancy; eutocic delivery course. Developmental milestones: walking at 18 months, first sentence at 48 months; developmental coordination disorder. Ear/nose/throat evaluation: painful hyperacusis, auditory acuity tests and auditory brainstem response test within normal range. Family history: proband's daughter presents with specific language impairment (positive for CNTN5 deletion)
 Full IQ score of 70 (Raven's Standard Progressive Matrices)
 96411646
 100397831
  3986186
 GRCh38
 Deletion
 Yes
  mercati_16_ASD_replication_cases-probandAU-DIJ-002
 6 yrs.
 F
 ASD and ADHD
 Case diagnosed with ASD based on ADI-R and ADOS assessment at age of 5 years and meeting DSM-5 criteria. ADI-R evaluation results: social domain score of 9 (cut-off of 10); communication domain score of 13; repetitive domain score of 1 (cut-off of 3). ADOS evaluation results: communication domain score of 2 (cut-off of 5), social interaction domain score of 4 (cut-off of 6); total score of 6. Birth/neonatal history: normal course of pregnancy; dystocic delivery; Apgar scores of 10 and 10 at 1 and 10 minutes, respectively; birth height of 46 cm, weight of 2790 g, head circumference of 32 cm. Developmental milestones: first symptoms of ASD at 24 months; walking at 12 months, first words at 18 months, first sentence at 30 months; developmental coordination disorder. Ear/nose/throat evaluation: case presents with abnormal hypersensitivity to sound (painful hyperacusis). Behavioral/psychiatric evaluation: ADHD. Family history: proband carries five copies of CNTN5 transmitted by her mother, who was diagnosed with specific learning disorder (SLD, reading); father presents with stuttering; cousin with epilepsy.
 Full IQ score of 82 (Wechsler)
 96411846
 100434593
  4022748
 GRCh38
 Duplication
 Yes

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 kushima_18_ASD_discovery_cases-caseASD0021
 While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
 
 Unknown
 Simplex
 Unknown
 MED28P5,RNA5SP347,RN7SKP53,LINC02553,CNTN5
 
 mercati_16_ASD_replication_cases-probandAU-DIJ-001
 FISH
 
 Unknown
 Multi-generational
 Likely segregated
 RNA5SP346,MED28P5,RNA5SP347,RN7SKP53,RPA2P3,LINC02553,JRKL,JRKL-AS1,CNTN5
 
 mercati_16_ASD_replication_cases-probandAU-DIJ-002
 FISH
 Possibly maternal
 Maternal
 Multi-generational
 Possibly segregated
 RNA5SP346,MED28P5,RNA5SP347,RN7SKP53,RPA2P3,LINC02553,JRKL,JRKL-AS1,CNTN5
 

Controls

No Control Data Available
No Animal Model Data Available
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