6q14.1-q16.1CNV Type: Deletion
Largest CNV size: 11184381 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Rare singleton deletion within this region was found in a case from a study of 15,749 individuals from the International Standards for Cytogenomic Arrays (ISCA) consortium with unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome (Kaminsky et al., 2011).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
The first patient with tandem duplication of 6q14q16: Molecular and phenotypic characterization.
Duplication
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engwerda_18_ASD/DD/ID_discovery_cases
Newly identified individuals with proximal 6q deletions recruited by the Chromosome 6 Project
20
Developmental delay, intellectual disability, autism spectrum disorder, connective tissue disorders, and/or heart defects were among the most frequently observed phenotypes in this cohort
Median age: 5 years 5 months
65.0% Male
14785926
2
0
2
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
11184381
1
0
1
sanmann_16_ASD/ID/EP_discovery_cases
8-year-old male patient with a 16.4 Mb tandem duplication of chromosome 6q14.1-q16.1
1
Case diagnosed with autism spectrum disorder and intellectual disability at 6 years of age (diagnostic tools N/A); case also diagnosed with pyelonephritis at 6 years of age. Case also presented with seizures, dysmorphic facial features, sensorineural hearing loss, and immune deficiency.
8 yrs.
Male
16400000
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engwerda_18_ASD/DD/ID_discovery_cases
European
aCGH, array SNP, solid phase hybridization
Affymetrix, Agilent, BlueGnome, CMA (OLIGO V6.4), Illumina, Oligo HD Scan
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
sanmann_16_ASD/ID/EP_discovery_cases
Caucasian
Array SNP
Affymetrix high-density SNP microarray
G-banded karyotyping
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engwerda_18_ASD/DD/ID_discovery_cases-caseId067
N/A
N/A
ASD, developmental delay, and intellectual disability
Case presents with developmental delay, ASD, heart defects, and at least two of the following connective tissue features: hyperlaxity, hernia of the abdominal wall, foot deformity and kyphosis/scoliosis.
Severe intellectual disability (IQ < 30)
82462562
93199281
10736720
GRCh38
Deletion
No
engwerda_18_ASD/DD/ID_discovery_cases-caseId077
N/A
N/A
ASD and developmental delay
Case presents with developmental delay, ASD and heart defects
79212539
93998464
14785926
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002517
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
82569098
93753476
11184379
GRCh38
Deletion
Yes
sanmann_16_ASD/ID/EP_discovery_cases-case1
8 yrs.
M
ASD, ID, and seizures
Case diagnosed with autism spectrum disorder at 6 years of age (diagnostic tools N/A). Birth/neonatal history: born at term with birth weight of 3714 g; delivery complicated by breech presentation; case failed newborn hearing screen bilaterally and started wearing hearing aids as an infant (no maternal exposures reported or potential infectious etiologies identified to explain congenital hearing loss). Developmental milestones: developmental delay with speech and language delay. Epilepsy/seizures: seizure-like activity reported at 3 months of age; seizure activity subsided from 3 to 5 years; case began having "shaking" episodes coinciding with confusion at 6 years of age and was started on anti-seizure medication. EEG: EEG at 6 years of age showed epileptiform spikes with sharp waves (right hemisphere greater than left). Brain imaging: normal head CT and MRI at 2 years of age. Auditory evaluation: case has undergone tympanostomy tube placement four times; hearing loss classified as moderate-severe high-frequency sensorineural. Additional medical history: case diagnosed with pyelonephritis at age of 6 years; abdominal CT scan showed mild dilatation of the distal ureters, thinning of the right renal cortex, and large right kidney compared to left; immune system work-up at 6 years of age showed low IgG and IgM, but normal IgA; case underwent left heel cord lengthening at 7 years of age duw to acquired pain and deformity due to chronic spasticity. Dysmorphic features: sparse lateral eyebrows, widely spaced eyes, small ears with overfolded helices, broad nasal bridge, broad and downward pointing nasal tip, elongated columella, mild shortening of the philtrum, thin upper lip, inverted nipples, keratosis on arms. Growth parameters: height of 1.28 m (34th %ile), weight of 33.29 kg (88th %ile), and head circumference of 50.7 cm (10th %ile) at 8 years of age. Family history: case born to nonconsanguineous parents; mother had five pregnancies with one early pregnancy loss; family history significant for learning disabilities in maternal half-brother and maternal half-sister; no family history of congenital hearing loss or immune deficiency.
Diagnosis of intellectual disability at 6 years of age (diagnostic tools N/A)
78240474
94686147
16445674
GRCh38
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engwerda_18_ASD/DD/ID_discovery_cases-caseId067
No validation reported
De novo
LAP3P1,SMARCE1P2,KRT18P64,LINC02535,DUTP5,TPT1P6,PKMP3,SNORD50B,SMIM11P1,RNU4-72P,RNU4-12P,RPL7P27,NDUFA5P9,RN7SL643P,RPL7P29,MTHFD2P2,RN7SKP209,CGA,RCN1P1,HSPD1P10,ST13P16,RNU6-444P,RN7SL183P,ACTBP8,RNU2-61P,PNRC1,RN7SL336P,TUBB3P1,NACAP7,RN7SL11P,DNAJC19P6,RPL22P14,RN7SKP110,MIR4464,MIR4643,MTATP6P25,MTND4LP19,MTCO1P56,RN7SL415P,RPL5P19,LINC02531,ATF1P1,COPS5P1,PGM3,RWDD2A,PRSS35,RIPPLY2,MRAP2,TBX18,TBX18-AS1,SYNCRIP,SNHG5,HTR1E,SMIM8,C6orf163,SLC35A1,ORC3,SPACA1,CNR1,SRSF12,PM20D2,GABRR1,UBE2J1,LYRM2,CASP8AP2,CASC6,UBE3D,DOP1A,ME1,SNAP91,CEP162,LINC01611,NT5E,SNX14,ZNF292,GJB7,CFAP206,RARS2,AKIRIN2,RNGTT,GABRR2,RRAGD,ANKRD6,MDN1,GJA10,MAP3K7,BACH2,CYB5R4
engwerda_18_ASD/DD/ID_discovery_cases-caseId077
No validation reported
De novo
HMGN3-AS1,DBIP1,RPL35AP18,AK4P5,RPL17P25,RPSAP72,RNA5SP210,LINC01526,RNU6-130P,TPBG,LAP3P1,SMARCE1P2,KRT18P64,LINC02535,DUTP5,TPT1P6,PKMP3,SNORD50B,SMIM11P1,RNU4-72P,RNU4-12P,RPL7P27,NDUFA5P9,RN7SL643P,RPL7P29,MTHFD2P2,RN7SKP209,CGA,RCN1P1,HSPD1P10,ST13P16,RNU6-444P,RN7SL183P,ACTBP8,RNU2-61P,PNRC1,RN7SL336P,TUBB3P1,NACAP7,RN7SL11P,DNAJC19P6,RPL22P14,RN7SKP110,MIR4464,MIR4643,MTATP6P25,MTND4LP19,MTCO1P56,RN7SL415P,RPL5P19,LINC02531,ATF1P1,COPS5P1,HMGN3,LCA5,LINC01621,ELOVL4,TTK,PGM3,RWDD2A,PRSS35,RIPPLY2,MRAP2,TBX18,TBX18-AS1,SYNCRIP,SNHG5,HTR1E,SMIM8,C6orf163,SLC35A1,ORC3,SPACA1,CNR1,SRSF12,PM20D2,GABRR1,UBE2J1,LYRM2,CASP8AP2,CASC6,GAPDHP63,BCKDHB,TENT5A,LINC02542,IBTK,UBE3D,DOP1A,ME1,SNAP91,CEP162,LINC01611,NT5E,SNX14,ZNF292,GJB7,CFAP206,RARS2,AKIRIN2,RNGTT,GABRR2,RRAGD,ANKRD6,MDN1,GJA10,MAP3K7,SH3BGRL2,BACH2,EPHA7,CYB5R4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002517
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LAP3P1,SMARCE1P2,KRT18P64,LINC02535,DUTP5,TPT1P6,PKMP3,SNORD50B,SMIM11P1,RNU4-72P,RNU4-12P,RPL7P27,NDUFA5P9,RN7SL643P,RPL7P29,MTHFD2P2,RN7SKP209,CGA,RCN1P1,HSPD1P10,ST13P16,RNU6-444P,RN7SL183P,ACTBP8,RNU2-61P,PNRC1,RN7SL336P,TUBB3P1,NACAP7,RN7SL11P,DNAJC19P6,RPL22P14,RN7SKP110,MIR4464,MIR4643,MTATP6P25,MTND4LP19,MTCO1P56,RN7SL415P,RPL5P19,LINC02531,ATF1P1,COPS5P1,PGM3,RWDD2A,PRSS35,RIPPLY2,MRAP2,TBX18,TBX18-AS1,SYNCRIP,SNHG5,HTR1E,SMIM8,C6orf163,SLC35A1,ORC3,SPACA1,CNR1,SRSF12,PM20D2,GABRR1,UBE2J1,LYRM2,CASP8AP2,CASC6,UBE3D,DOP1A,ME1,SNAP91,CEP162,LINC01611,NT5E,SNX14,ZNF292,GJB7,CFAP206,RARS2,AKIRIN2,RNGTT,GABRR2,RRAGD,ANKRD6,MDN1,GJA10,MAP3K7,BACH2,EPHA7,CYB5R4
sanmann_16_ASD/ID/EP_discovery_cases-case1
G-banded karyotyping
Unknown
Unknown
HMGN3-AS1,DBIP1,RPL35AP18,AK4P5,RPL17P25,RPSAP72,RNA5SP210,LINC01526,RNU6-130P,TPBG,LAP3P1,SMARCE1P2,KRT18P64,LINC02535,DUTP5,TPT1P6,PKMP3,SNORD50B,SMIM11P1,RNU4-72P,RNU4-12P,RPL7P27,NDUFA5P9,RN7SL643P,RPL7P29,MTHFD2P2,RN7SKP209,CGA,RCN1P1,HSPD1P10,ST13P16,RNU6-444P,RN7SL183P,ACTBP8,RNU2-61P,PNRC1,RN7SL336P,TUBB3P1,NACAP7,RN7SL11P,DNAJC19P6,RPL22P14,RN7SKP110,MIR4464,MIR4643,MTATP6P25,MTND4LP19,MTCO1P56,RN7SL415P,RPL5P19,LINC02531,ATF1P1,COPS5P1,MTCYBP36,HMGN3,LCA5,LINC01621,ELOVL4,TTK,PGM3,RWDD2A,PRSS35,RIPPLY2,MRAP2,TBX18,TBX18-AS1,SYNCRIP,SNHG5,HTR1E,SMIM8,C6orf163,SLC35A1,ORC3,SPACA1,CNR1,SRSF12,PM20D2,GABRR1,UBE2J1,LYRM2,CASP8AP2,CASC6,IRAK1BP1,PHIP,GAPDHP63,BCKDHB,TENT5A,LINC02542,IBTK,UBE3D,DOP1A,ME1,SNAP91,CEP162,LINC01611,NT5E,SNX14,ZNF292,GJB7,CFAP206,RARS2,AKIRIN2,RNGTT,GABRR2,RRAGD,ANKRD6,MDN1,GJA10,MAP3K7,SH3BGRL2,BACH2,EPHA7,CYB5R4
Controls
No Control Data Available
No Animal Model Data Available