12p12.1-p11.23CNV Type: Deletion
Largest CNV size: 4930000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A deletion within this region was identified in a female patient with mild intellectual disability (Schanze et al., 2012).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability.
Deletion
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
schanze_12_ID_discovery_cases
Three unrelated patients with overlapping 12p12.1 microdeletions (two of these patients identified following a search of the DECIPHER database after detection of microdeletion in patient 1).
3
Intellectual disability (ID), motor and speech delays
Range, 2.5-9 yrs.
66.67% Male
4930000
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
schanze_12_ID_discovery_cases
1 German, 1 British, 1 unknown
aCGH, array SNP
Affymetrix 6.0, Agilent OGT CytoSure ISCA 8x60K, Baylor College of Medicine/Agilent microarray v8.0
Affymetrix Genotyping 4.1, ChAS v1.2, CytoSure Interpret v3.4.3, custom analytical software
FISH
Controls
No Control Data Available
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
schanze_12_ID_discovery_cases-case3
7 yrs.
F
Intellectual disability
Birth/neonatal history: pregnancy complicated by low-grade fever and malaise, treated with ibuprofen during 1st trimester but otherwise normal; born full term by spontaneous vaginal delivery. Birth parameters: normal. Developmental milestones: moderate motor delay (sitting at 1 year, standing at 1.5 years, walked at 20 months), speech delay (first words at 3 years, putting words together after 5 years); toilet trained at 4 years. Motor and musculoskeletal evaluation: short 3rd phalanges, brachydactyly 2-5th toes, narrow chest, flaring of anterior ribs. Behavioral anomalies: none. Epilepsy/seizures: none. Other features: Intermittent chronic constipation, IgA deficiency, frequent respiratory and ear infections, reactive airway disease. Dysmorphic features: no apparent dysmorphic features noted. Growth parameters: height 4th %ile, weight 30th %ile, OFC N/A.
Mild intellectual disability
22456985
27385427
4928443
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
schanze_12_ID_discovery_cases-case3
FISH
Unknown
Unknown
Unknown
LRRC34P1,RPS27P22,MIR920,KNOP1P1,CENPUP2,RNU4-67P,TUBB4BP1,RN7SKP262,TDGP1,MIR4302,BHLHE41,RNA5SP354,C12orf71,SOX5-AS1,LINC00477,RN7SL38P,C12orf77,ETFRF1,KRAS,RASSF8,INTS13,FGFR1OP2,MED21,C2CD5,ETNK1,BCAT1,LRMP,LMNTD1,RASSF8-AS1,ITPR2,TM7SF3,ARNTL2,SOX5,SSPN,STK38L,CASC1
Controls
No Control Data Available
No Animal Model Data Available