12p13.1-p12.1CNV Type: Deletion
Largest CNV size: 10450000 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 global developmental delay, severe intellectual disability, and lack of speech.
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
10450000
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-subject11
4.25 yrs.
F
Developmental delay + intellectual disability
Speech delay: no words yet. Motor delay: walked at 4 years. Behavioral problems: hand twirling but social. Hypotonia: yes. Seizures: none. Brain malformations: hypoplastic corpus callosum, mild cerebral volume loss, mild prominence of lateral ventricles. Other neurological features: none. Musculoskeletal anomalies: 1-2 syndactyly on right hand, medially deviated and broad right index finger, narrow left palm, hypoplastic right thenar eminence, limited motion of fingers, right clubfoot, congential fusion C5-C7 causing torticollis, hypermobility, lack of muscle control of right face at birth. Additional features: ventricular septal defect, alternating constipation/diarrhea, eczema. Ophthalmologic features: none. Dysmorphic features: mild frontal bossing, positional plagiocephaly, epicanthal folds, small glabellar hemangioma, midface hypoplasia, short philtrum. Growth parameters: weight, 34th %ile; height, 4th %ile; OFC, 29th %ile. Family history: mother had hiatal hernia and was congenitally "pigeon-toes:' paternal history of clubfoot and ventricular septal defect.
Global developmental delay; severe intellectual disability
14651948
25101335
10449388
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-subject11
FISH
Unknown
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,WBP11,ART4,ERP27,PDE6H,RERG-AS1,STRAP,SUPT16HP1,LMO3,PSMC1P8,PLCZ1,PYROXD1,GOLT1B,SPX,GYS2,LDHB,KCNJ8,CMAS,SULT6B2P,SOX5-AS1,LINC00477,RN7SL38P,C12orf77,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,GUCY2C,EPS8,SLCO1B7,SOX5
Controls
No Control Data Available
No Animal Model Data Available