16q24.1-q24.2CNV Type: Deletion
Largest CNV size: 2001294 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Deletions within this region were reported in four cases, including one ASD case (Handrigan et al., 2012).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
dharmadhikari_14_ASD/ID_discovery_cases
Four cases with 16q24.1 duplications involving the FOXF1 gene: two from Medical Genetics Laboratories at Baylor College of Medicine; one from the Medical Genetics Center, Munich, Germany; and one reported in DECIPHER (265898) from the Saint Vincent de Paul Catholic Hospitals Association of Lille, Free Faculty of Medicine, Lille, France
4
Three cases with neurodevelopmental phenotypes [case 1 diagnosed with speech delay and behavioral problems; case 2 diagnosed with autism (based on DSM-V), with additional diagnoses of unspecified mood and anxiety disorder, pervasive developmental disorder not otherwise specified (PDD-NOS), and emotional disorder; case 4 diagnosed with speech delay, motor delay, and borderline intellectual disability]; one case (case 3) with normal psychomotor development but diagnosis with pyloric stenosis, mesenterium commune, aplasia of the appendix, and multiple sclerosis.
Range, 4 yrs. 2 mos.-47 yrs.
75% Male
1720000
0
1
1
handrigan_13_ASD/DD/ID_discovery_cases
Patients with 16q24.2 deletions recruited at the University of Alberta, Edmonton, the Hospital for Sick Children, Toronto, Signature Genomic Laboratories, and the Mayo Clinic).
35
22 patients with ASD (19 with pervasive developmental delay/PDD, 3 with autism), 3 patients with intellectual disability (defined as IQ<70 by DSM-IV); 11 patients with facial dysmorphisms.
Range, 0 mos.-20 yrs.
48.57% Male
2001294
4
0
4
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
handrigan_13_ASD/DD/ID_discovery_controls
Microarray data from population-based control individuals [4783 controls from the Wellcome Trust Case Control Consortium (WTCCC), 1123 PopGen controls from Germany, 1234 controls from the Ottawa Heart Institute, 1056 controls from HapMap, 1287 controls from SAGE, 1120 population controls from Ontario, and 416 controsl from the Ontario Population Genomics Platform]
11019
Control
NA
NA
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
dharmadhikari_14_ASD/ID_discovery_cases
2 cases from United States, 1 case from Germany, 1 case from France
aCGH
Agilent/BCM V8.1.1 OLIGO 180 K, Agilent/BCM V9.1.1 OLIGO 400 K, BlueGnome CytoChip v1.0 180K, Agilent 8x60K
FISH, LR-PCR
handrigan_13_ASD/DD/ID_discovery_cases
NA
aCGH, solid phase hybridization
Illumina Omni 2.5M-Quad BeadChip, SignatureChipOS V1.0 105K, V2.0 135K, V3.0 135K, BACs aCGH, Agilent 4x180K ISCA V2, Agilent ISCA 44K, Agilent 180K
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
handrigan_13_ASD/DD/ID_discovery_controls
NA
N/A
N/A
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
dharmadhikari_14_ASD/ID_discovery_cases-case4
10.5 yrs.
M
Intellectual disability
Case is reported in DECIPHER database (DECIPHER ID 265898). Birth/neonatal history: diagnosed with a club foot during pregnancy, which was surgically corrected. Developmental milestones: speech delay, motor delay. Additional medical history: no respiratory or cardiac defects observed. Growth parameters: height of 135.5 cm (25th-50th %ile), weight of 29.3 kg (25th-50th %ile), and head circumference of 52 cm (10th-25th %ile). Family history: case was born to healthy and non-consanguineous 23 and 25-year-old parents.
Borderline intellectual disability
85414390
87134357
1719968
GRCh38
Duplication
Yes
handrigan_13_ASD/DD/ID_discovery_cases-patient21
8 mos.
M
Other
Neurodevelopmental abnormalities: none reported. Urological abnormalities: none reported. Other features: none reported. Growth parameters: not reported.
86652545
87150322
497778
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_cases-patient34
6 yrs.
M
Other
Neurodevelopmental abnormalities: none reported. Urological abnormalities: none reported. Other features: none reported. Growth parameters: not reported.
86899769
87849379
949611
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_cases-patient6
16 days
F
Mulitple congential anomalies
Patient died at 16 days postnatal. Neurodevelopmental abnormalities: none reported. Urological abnormalities: mild bilateral hydronephrosis. Other features: respiratory distress, spontaneous pneumothorax and pulmonary hypertension at birth, prominent nasal bridge, deep-set eyes, mild retrognathia, cardiovascular abnormalities (partial atrioventricular canal defect, atrial septal defect, ventricular septal defect, patent ductus arteriosis), segmental abnormality of T10 vertebral body. Neonatal growth parameters: height 99.8th %ile, weight 92.9th %ile.
85848085
87849379
2001295
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_cases-patient8
9 yrs.
F
ASD
Neurodevelopmental abnormalities: PDD (pervasive developmental delay), speech delay, social awkardness. Urological abnormalities: none reported. Other features: macrocephaly, small ears, high-arched palate, hypertelorism, maxillary hypoplasia. Growth parameters: overgrowth for both weight and height.
86672163
87766879
1094717
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
dharmadhikari_14_ASD/ID_discovery_cases-case4
FISH, LR-PCR
Maternal
Unknown
Unknown
RN7SL381P,MIR1910,RNU1-103P,MIR6774,LINC02132,LINC02135,FOXF1,FOXC2-AS1,FOXC2,FOXL1,LINC02189,LINC02181,GINS2,EMC8,COX4I1,IRF8,LINC01082,LINC00917,MTHFSD,FLJ30679,LINC02188,GSE1,C16orf74,LINC01081,FENDRR,C16orf95
handrigan_13_ASD/DD/ID_discovery_cases-patient21
De novo
Unknown
Unknown
LINC02189,LINC02181,LINC02188,C16orf95
handrigan_13_ASD/DD/ID_discovery_cases-patient34
Unknown
Unknown
Unknown
LINC02181,FBXO31,MAP1LC3B,KLHDC4,SLC7A5,MIR6775,C16orf95,ZCCHC14,JPH3
handrigan_13_ASD/DD/ID_discovery_cases-patient6
Unknown
Unknown
Unknown
MIR6774,LINC02132,LINC02135,FOXF1,FOXC2-AS1,FOXC2,FOXL1,LINC02189,LINC02181,IRF8,LINC01082,LINC00917,MTHFSD,FLJ30679,LINC02188,FBXO31,MAP1LC3B,KLHDC4,SLC7A5,MIR6775,LINC01081,FENDRR,C16orf95,ZCCHC14,JPH3
handrigan_13_ASD/DD/ID_discovery_cases-patient8
De novo
Unknown
Unknown
LINC02189,LINC02181,LINC02188,FBXO31,MAP1LC3B,KLHDC4,C16orf95,ZCCHC14,JPH3
Controls
No Control Data Available
No Animal Model Data Available