12p12.1-p11.22CNV Type: Deletion
Largest CNV size: 5660000 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Deletions in this region containing the SOX5 gene were identified in two individuals with developmental delay and/or intellectual disability.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic...
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
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
kushima_22_SCZ_discovery_cases
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
3014
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 45 yrs.
53.5% Male
4305029
0
1
1
lamb_12_DD/ID_discovery_cases
Subjects referred for clinical molecular cytogenetic testing to Signature Genomic Laboratories, Seattle Children's Hospital, Pittsburgh Cytogenetic Laboratories, Nantes University Hospital, or Hpital Jean Verdier, or through enrollment in Developmental Genome Anatomy Project (DGAP).
14
Developmental delay (DD) and/or intellectual disability (ID). Several cases also display ADHD or autistic beahviors.
Range, 4.5 mos.-11 yrs.
35.71% Male
5660000
2
0
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kushima_22_SCZ_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
lamb_12_DD/ID_discovery_cases
NA
aCGH, solid phase hybridization
SignatureChip 105K whole-genome array (SignatureChip OS v1), SignatureChip 135K array (SignatureChip OS v2), Agilent 105K, Agilent 180K, Roche NimbleGen 135K, Illumina HumanHap300
FISH
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
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_22_SCZ_discovery_cases-caseSCZ3462
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
25359277
29664305
4305029
GRCh38
Duplication
Yes
lamb_12_DD/ID_discovery_cases-subject14
9 yrs.
F
DD/ID
Speech delay: yes. Motor delay: NA. Behavioral problems: complusive, ritualistic, distractible. Hypotonia: severe hypotonia. Seizures: none. Brain malformations: none. Other neurological features: none. Musculoskeletal anomalies: short fingers and metacarpals, short toes, deviated 2nd fingers, short thumbs, broad great toes, cone-shaped epiphyses on phalanges. Additional features: slight arrhythmia. Ophthalmologic features: strabismus, optic nerve hypoplasia. Dysmorphic features: low facial tone, prominent nasal bridge, small alae, broad nasal tip, midline nasal dimple, narrow palate. Growth parameters: weight, 25th %ile; height, 10th-25th %ile; OFC, 75th %ile. Family history: NA.
DD/ID
23043475
28701137
5657663
GRCh38
Deletion
Yes
lamb_12_DD/ID_discovery_cases-subject16
10 mos.
F
DD/ID
Speech delay: NA. Motor delay: NA. Behavioral problems: HA. Hypotonia: none. Seizures: none. Brain malformations: NA. Other neurological features: none. Musculoskeletal anomalies: rhizomelia. Additional features: gastroesophageal reflux diease, laryngomalacia, eczema. Ophthalmologic features: none. Dysmorphic features: midface hypoplasia. Growth parameters: weight, <3rd %ile; height, <3rd %ile; OFC, 3rd-5th %ile. Family history: father has low weight (111 lb., 5'6"), reportedly shirt digits, poor dentition, Asperger-like features, recurrent fevers.
DD/ID
24302634
28498456
4195823
GRCh38
Deletion
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_22_SCZ_discovery_cases-caseSCZ3462
qRT-PCR
Unknown
TM7SF3,ERGIC2,INTS13,FAR2,CCDC91,KLHL42,MRPS35,ARNTL2,BHLHE41,TMTC1,LMNTD1,SMCO2,OVCH1,REP15,TDGP1,C12orf71,ITPR2,RPL21P99,MANSC4,RARS1P1,FAM133GP,HMGB1P49,MIR4302,RASSF8-AS1,RNA5SP354,OVCH1-AS1,PTHLH,ARNTL2-AS1,TUBB4BP1,RNA5SP355,RN7SKP262,RNU4-54P,RNU4-67P,RN7SKP15,MRPS35-DT,SSPN,PPFIBP1,MED21,RASSF8,FGFR1OP2,STK38L
lamb_12_DD/ID_discovery_cases-subject14
FISH
Unknown
MIR920,KNOP1P1,CENPUP2,RNU4-67P,TUBB4BP1,RN7SKP262,TDGP1,MIR4302,BHLHE41,RNA5SP354,C12orf71,RARSP1,REP15,HMGB1P49,RN7SKP15,RNU4-54P,RNA5SP355,SOX5-AS1,LINC00477,RN7SL38P,C12orf77,ETFRF1,KRAS,RASSF8,INTS13,FGFR1OP2,MED21,SMCO2,MRPS35,MANSC4,PTHLH,BCAT1,LRMP,LMNTD1,RASSF8-AS1,ITPR2,TM7SF3,ARNTL2,ARNTL2-AS1,PPFIBP1,KLHL42,SOX5,SSPN,STK38L,CCDC91,CASC1
lamb_12_DD/ID_discovery_cases-subject16
FISH
Paternal
KNOP1P1,CENPUP2,RNU4-67P,TUBB4BP1,RN7SKP262,TDGP1,MIR4302,BHLHE41,RNA5SP354,C12orf71,RARSP1,REP15,HMGB1P49,RN7SKP15,RNU4-54P,LINC00477,RN7SL38P,C12orf77,ETFRF1,KRAS,RASSF8,INTS13,FGFR1OP2,MED21,SMCO2,MRPS35,MANSC4,PTHLH,BCAT1,LRMP,LMNTD1,RASSF8-AS1,ITPR2,TM7SF3,ARNTL2,ARNTL2-AS1,PPFIBP1,KLHL42,SOX5,SSPN,STK38L,CCDC91,CASC1
Controls
No Control Data Available
No Animal Model Data Available