4p13-p12CNV Type: Duplication
Largest CNV size: 2420000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A duplication encompassing this region, which contains a GABAA receptor subunit gene cluster, was found to segregate with a variety of neurodevelopmental disorders in a family whose members presented with ASD, ADHD, and developmental delay.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
No Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
polan_13_ASD_discovery_cases
Two male ASD probands with 4p13-p12 duplications: the index case from a family affected with a variety of neurodevelopmental disorders, and an additional unrelated individual
2
Both cases with ASD/Autistic Disorder (Diagnosis based on evaluation using ADOS Module 1 or 2)
Range, 6-8 yrs.
Male
2420000
0
2
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
2440598
0
1
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
polan_13_ASD_discovery_cases
1 Caucasian, 1 N/A
aCGH
Agilent SignatureSelect OS 105K v1.1, NimbleGen CGX-3 135K
FISH
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
polan_13_ASD_discovery_cases-familyAindividualIV-2
6 yrs.
M
ASD
Diagnosis of Autistic Disorder and Severe Mixed Receptive/Expressive Communication Disorder; total score of 18 on ADOS Module 1 (cutoff of 12 for autism, 7 for ASD); initial psychological evaluation performed at 2 years 9 months. Birth/neonatal history: born at term with birth weight of 3.96 kg; no known exposure to teratogenic agents. Developmental milestones: normal early milestones; sat at 6 months of age, crawled at 12 months of age, walked by 18 months of age; first words between 12-18 monhts of age, and soon after started speaking in short phrases; lost language and communicative skills and developed repetitive stereotypic behavior at 24 months of age. EEG: non-specifically abnormal at age of 44 months and 5 years, but no occurrence of clinical seizure events. Growth parameters: normal weight, height, and head circumference. Family history: born to non-consanguineous parents; older brother diagnosed with fine motor delays and tremor, ADHD, and sleep disorder (carried 4p13-p12 duplication); younger brother with global developmental delays and possible risk for ADHD and OCD (carries 4p13-p12 duplication); father with depression; mother with learning disability; two maternal half-siblings with ADHD (one did not carry 4p13-p12 duplication, the other declined testing); maternal grandfather (no 4p13-p12 duplication) and grandmother (carries 4p13-p12 duplication) diagnosed with bipolar disorder; maternal grandmother's first cousin once removed with autism (not tested).
Intellectual disability; Leiter-R full-scale IQ score of 48, Stanford-Binet abbreviated IQ score of 55.
45845414
48271556
2426143
GRCh38
Duplication
Yes
polan_13_ASD_discovery_cases-familyBindividual1
8 yrs.
M
ASD
Diagnosis of ASD based on evaluation with ADOS Module 2 (case score was 24, with cutoff for autism at 8 and ASD at 9) during formal psychological evaluation at age of 7 years 7 months. Birth/neonatal history: born at term with birth weight of 4.19 kg; no complications reported with pregnancy, birth, or during postnatal stay. Developmental milestones: normal milestones during infancy; used about 20 words at age of 18 months, but suddenly stopped using words, and then began using them again around 36 months. Language and communication evaluation: diagnosed with speech delay; started private speech therapy at age of 3 years; with therapies, case slowly gained words back. Family history: ADHD and dyslexia in father; muscular dystrophy (specific type unknown) in father, paternal uncle, and paternal grandfather; healthy mother; several maternal relatives with possible bipolar disorder; reportedly healthy 3-year-old brother; no family history of ASD or ID.
45847989
48271506
2423518
GRCh38
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
sanders_11_ASD_discovery_controls-11246.s1
6.7
F
Control (matched sibling)
NA
NA
45837723
48278321
2440599
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
polan_13_ASD_discovery_cases-familyAindividualIV-2
FISH
Maternal
Multi-generational
Incomplete segregation (5/5 individuals in family known to carry duplication are affected; at least one affected individual in family does not carry duplication)
RN7SKP199,RNU6-412P,RAC1P2,COMMD8,MIR8053,RNU6-838P,GABRG1,NFXL1,GABRA2,COX7B2,GABRA4,ATP10D,CORIN,NIPAL1,CNGA1,TXK,GABRB1,TEC
polan_13_ASD_discovery_cases-familyBindividual1
FISH
Unknown (not paternal)
Simplex
Unknown
RN7SKP199,RNU6-412P,RAC1P2,COMMD8,MIR8053,RNU6-838P,GABRG1,NFXL1,GABRA2,COX7B2,GABRA4,ATP10D,CORIN,NIPAL1,CNGA1,TXK,GABRB1,TEC
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sanders_11_ASD_discovery_controls-11246.s1
Paternal
Simplex (quad)
NA
RN7SKP199,RNU6-412P,RAC1P2,COMMD8,MIR8053,RNU6-838P,GABRG1,NFXL1,GABRA2,COX7B2,GABRA4,ATP10D,CORIN,NIPAL1,CNGA1,TXK,GABRB1,TEC
No Animal Model Data Available