11p14.3-p13CNV Type: Deletion
Largest CNV size: 11400000 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
De novo deletions spanning this region were observed in two unrelated patients presenting with WAGR syndrome; one of these two cases also presented with autism (Xu et al., 2008).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism.
Deletion
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
nishizawa_21_ASD/DD/ID_discovery_cases
Only child of healthy non-consanguineous Japanese parents presenting with WAGR syndrome.
1
Case diagnosed with autism spectrum disorder (ASD; according to DSM-5 criteria) and presenting with developmental delay (DD; assessed using the Kyoto Scale of Psychological Development) and severe intellectual disability (ID).
6 yrs.
Male
7088134
1
0
1
xu_08_WAGR/ASD/DD/ID_discovery_cases
Patients with WAGR syndrome and de novo deletions in the 11p14-p12 region previously detected by FISH
31
All 31 patients diagnosed with WAGR syndrome; neurodevelopmental comorbidities within this cohort include intellectual disability, developmental delay, autism, ADHD, seizures, anxiety, obsessive-compulsive behaviors, and speech delay/speech disorder
Range, 3-46 yrs.
45.16% Male
11400000
2
0
2
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
nishizawa_21_ASD/DD/ID_discovery_cases-case1
6 yrs.
M
ASD, developmental delay, and intellectual disability
Birth/neonatal history: born at 40 weeks gestation by spontaneous vaginal delivery; birth weight 2926 g (-0.2 SD), birth length 46.0 cm (-1.4 SD), birth OFC 33.0 cm (-0.2 SD); bilateral aniridia and bilateral cryptorchidism detected in the newborn period. Developmental milestones: mild motor delay (raised his head at 5 months, sat without support at 15 months, walked indepdendently at 2 years 1 month); developmental quotient (DQ) score of 32 on the Kyoto Scale of Psychological Development (KSPD), with Physical-Motor DQ score of 39, Cognitive-Adaptive DQ score of 32, and Language-Social DQ score of 27. Language and communication evaluation: no expressive language at 5 years 8 months. Behavioral/psychiatric evaluation: diagnosis of ASD according to DSM-5 criteria, Pervasive Developmental Disorders Autism Society Japan Rating Scale (PARS) score of 34 points (cut-off value of 9 points for an autistic trait in early childhood); excitability, temper tantrums, lack of stranger anxiety, self-mutilation, and excess attention to his special interests from infancy; avoidance of eye contact, preference for sensory and repetitive behavior, strong hypoesthesia to touch, pain, and temperature, high pain tolerance (largely insensitive to pain from scratches, bruises, needlestick wounds, and burn or cold injuries). Ophthalmological evaluation: high myopia, progressive axial myopia, amblyopia, constant exotropia, pendulum-like congenital nystagmus, photophobia due to aniridia. Additional medical history: mild delay in central conduction time noticed in short latency somatosensory evoked potential (SSEP) examination. Family history: only child of healthy non-consanguineous Japanese parents; family history was negative for neurodevelopmental disorders.
Severe intellectual disability
25806264
32894397
7088134
GRCh38
Deletion
No
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF1a
11 yrs.
M
WAGR syndrome, ASD, and ID
PDD-NOS, anxiety, obsessive-compulsive
Intellectual disability
24870733
36288020
11417288
GRCh38
Deletion
Yes
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF9a
9 yrs.
F
WAGR syndrome, DD and ID
Developmental delay, speech disorder, anxiety, ADHD
Intellectual disability, developmental delay
25866448
35176625
9310178
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
nishizawa_21_ASD/DD/ID_discovery_cases-case1
Unknown
Simplex
BDNF,MPPED2,ELP4,WT1-AS,LIN7C,LGR4,QSER1,PRRG4,ANO3,KIF18A,CCDC34,CYCSP25,DNAJC24,ARL14EP,MUC15,CBX3P1,IMMP1L,SLC5A12,METTL15,HSP90AA2P,FSHB,DCDC1,FIBIN,OR2BH1P,CCDC73,BDNF-AS,RPL7AP58,MIR610,KCNA4,PAX6,RPL12P30,HNRNPA3P9,HNRNPRP2,ATP5MGP8,RNA5SP339,LINC00678,RCN1,MIR8087,MIR8068,BBOX1-AS1,PAUPAR,LINC02546,ANO3-AS1,LINC02755,LINC02742,LGR4-AS1,ARL14EP-DT,MPPED2-AS1,LINC02758,LINC01616,RN7SL240P,THEM7P,RN7SKP158,EIF4A2P5,BBOX1,WT1,EIF3M
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF1a
aCGH (Agilent)
De novo
Likely segregated
RPL36AP40,MUC15,FIBIN,LIN7C,MIR8087,RNA5SP339,CBX3P1,HSP90AA2P,MIR610,RN7SKP158,MIR8068,OR2BH1P,HNRNPRP2,RN7SL240P,RPL7AP58,LINC01616,FSHB,RPL12P30,CYCSP25,EIF4A2P5,HNRNPA3P9,PIGCP1,RPL29P23,C11orf91,FBXO3-DT,CIR1P3,MIR1343,CD44-AS1,KRT18P14,RPL12P31,MIR3973,SLC5A12,BBOX1,CCDC34,LINC00678,ARL14EP,MPPED2-AS1,DNAJC24,PAX6,RCN1,WT1,WT1-AS,EIF3M,PRRG4,TCP11L1,LINC00294,CSTF3-DT,CD59,FBXO3,LMO2,NAT10,ELF5,EHF,CD44,FJX1,COMMD9,LUZP2,ANO3,BBOX1-AS1,LGR4,BDNF-AS,BDNF,KIF18A,LINC02546,KCNA4,DCDC1,ELP4,PAUPAR,THEM7P,CCDC73,QSER1,DEPDC7,CSTF3,HIPK3,CAPRIN1,ABTB2,CAT,APIP,PDHX,SLC1A2,PAMR1,TRIM44,LDLRAD3,METTL15,MPPED2,IMMP1L,KIAA1549L
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF9a
aCGH (Agilent)
De novo
Likely segregated
MUC15,FIBIN,LIN7C,MIR8087,RNA5SP339,CBX3P1,HSP90AA2P,MIR610,RN7SKP158,MIR8068,OR2BH1P,HNRNPRP2,RN7SL240P,RPL7AP58,LINC01616,FSHB,RPL12P30,CYCSP25,EIF4A2P5,HNRNPA3P9,PIGCP1,RPL29P23,C11orf91,FBXO3-DT,CIR1P3,MIR1343,SLC5A12,BBOX1,CCDC34,LINC00678,ARL14EP,MPPED2-AS1,DNAJC24,PAX6,RCN1,WT1,WT1-AS,EIF3M,PRRG4,TCP11L1,LINC00294,CSTF3-DT,CD59,FBXO3,LMO2,NAT10,ELF5,EHF,CD44,ANO3,BBOX1-AS1,LGR4,BDNF-AS,BDNF,KIF18A,LINC02546,KCNA4,DCDC1,ELP4,PAUPAR,THEM7P,CCDC73,QSER1,DEPDC7,CSTF3,HIPK3,CAPRIN1,ABTB2,CAT,APIP,PDHX,METTL15,MPPED2,IMMP1L,KIAA1549L
Controls
No Control Data Available
No Animal Model Data Available