12p13.1-p11.23CNV Type: Deletion
Largest CNV size: 12090000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A deletion containing the SOX5 gene was identified in a female with moderate intellectual disability, speech delay, hyperactivity and anxiety.
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
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
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
12090000
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
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
lamb_12_DD/ID_discovery_cases-subject10
6 yrs.
F
Intellectual disability
Speech delay: greatest delays in expressive speech. no words and 5 signs at 6 years. Motor delay: NA. Behavioral problems: hyperactivity, anxiety. Hypotonia: none. Seizures: none. Brain malformations: mild ventriculomegaly with prominent sulci, suggesting volume loss. Other neurological features: brisk deep tendon reflexes. Musculoskeletal anomalies: mild ulnar drift of hands, bilateral thenar hypoplasia, adducted thumbs, 2 parallel thenar creases, progressive toe contractures, progressive valgus great toe deformity, early metopic fusion. Additional features: none. Ophthalmologic features: none. Dysmorphic features: metopic ridge, bitemporal grooves, short upslanted palpebral fissures, prominent and boxy nasal tip, alar hypoplasia. Growth parameters: weight, 10th %ile; height, 10th %ile; OFC, 3rd %ile. Family history: father is borderline microcephalic; otherwise non-contributory.
Moderate intellectual disability
14383194
26476096
12092903
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
lamb_12_DD/ID_discovery_cases-subject10
FISH
Unknown
RN7SKP134,HIST4H4,H2AFJ,MGP,LINC01489,RERG-IT1,METTL8P1,RNU6-251P,EGLN3P1,EEF1A1P16,RNU6-837P,RPL7P40,TIMM17BP1,MIR3974,NDFIP1P1,ZKSCAN7P1,PSMC1P9,CAPZA3,RPL7P6,MEF2BNBP1,RN7SL459P,RN7SL67P,PDCD5P1,RNU6-254P,EEF1A1P4,RNU1-146P,TCP1P3,LINC02468,UBE2L2,ELOCP31,RNU1-149P,LRRC34P1,RPS27P22,MIR920,KNOP1P1,CENPUP2,RNU4-67P,TUBB4BP1,RN7SKP262,TDGP1,MIR4302,BHLHE41,RNA5SP354,PLBD1-AS1,WBP11,ART4,ERP27,PDE6H,RERG-AS1,STRAP,SUPT16HP1,LMO3,PSMC1P8,PLCZ1,PYROXD1,GOLT1B,SPX,GYS2,LDHB,KCNJ8,CMAS,SULT6B2P,SOX5-AS1,LINC00477,RN7SL38P,C12orf77,ETFRF1,KRAS,RASSF8,ATF7IP,PLBD1,C12orf60,SMCO3,ARHGDIB,RERG,PTPRO,DERA,SLC15A5,MGST1,LINC02378,RERGL,PIK3C2G,PLEKHA5,AEBP2,LINC02398,PDE3A,SLCO1C1,SLCO1B3,SLCO1B1,SLCO1A2,IAPP,RECQL,ABCC9,ST8SIA1,C2CD5,ETNK1,BCAT1,LRMP,LMNTD1,RASSF8-AS1,ITPR2,GUCY2C,EPS8,SLCO1B7,SOX5,SSPN,CASC1
Controls
No Control Data Available
No Animal Model Data Available