6q13-q14.1CNV Type: Deletion
Largest CNV size: 3106184 bp
Statistics Box:
Number of Reports: 6
Number of Reports: 6
Summary Information
A maternally-transmitted deletion of the 6q13-q14.1 region was identified in a patient from the Deciphering Developmental Disorders (DDD) study that presented with global developmental delay, aggressive and restrictive behavior, and microcephaly (Fitzgerald et al., 2014).
Additional Locus Information
References
Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
ceylan_18_DD/ID_discovery_cases
Patients examined at the department of genetics between May 2016 and April 2017
124
Global developmental delay/intellectual disability (DD/ID) and/or congenital anomalies
Range, 15 days-17 years
58.87% Male
9200000
1
0
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
9100000
1
0
1
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
11117342
2
0
2
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
3106184
1
0
1
kampmeier_23_ASD/DD/ID_discovery_cases
Individuals with 6q14.1 deletions affecting the PHIP gene from an initial cohort of 23 previously unreported individuals with PHIP-associated Chung-Jansen syndrome.
5
All five cases presented with developmental delay (DD) and intellectual disability (ID), while one case also presented with autism spectrum disorder (ASD).
Range, 5-54 yrs.
40% Male
4556350
1
0
1
stamouli_18_ASD/NDD_discovery_cases
Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
N/A
N/A
953178
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
stamouli_18_ASD/NDD_discovery_controls
Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
N/A
N/A
797480
0
1
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
ceylan_18_DD/ID_discovery_cases
Turkish
Array SNP
Affymetrix CytoScan Optima
ChAS v.3.1
None
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
qPCR
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
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
kampmeier_23_ASD/DD/ID_discovery_cases
NA
CMA
NA
NA
NA
None
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
qPCR
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
ceylan_18_DD/ID_discovery_cases-case7
8.5 yrs.
N/A
Developmental delay and intellectual disability
Developmental milestones: developmental delay. Dysmorphic features: long face, wide mouth, high arched palate. Other findings: patent ductus arteriosus, renal agenesis, pes equinovarus.
Intellectual disability
69663344
78944437
9281094
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_296358
N/A
F
Developmental delay/intellectual disability
72518652
81654035
9135384
GRCh38
Deletion
Yes
engwerda_18_ASD/DD/ID_discovery_cases-caseId011
N/A
N/A
Developmental delay
Developmental delay
70294383
80343812
10049430
GRCh38
Deletion
No
engwerda_18_ASD/DD/ID_discovery_cases-caseId019
N/A
N/A
N/A
Clinical profile N/A (individual did not present with developmental delay, ASD, connective tissue disorders, or heart defects)
Normal (IQ > 85)
71216496
82333824
11117329
GRCh38
Deletion
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER262261
N/A
M
Developmental delay and behavioral abnormalities
Global developmental delay; Aggressive behavior; Restrictive behavior; Microcephaly; Abnormal facial shape; Macrotia; Abnormality of eye movement
72999342
76105532
3106191
GRCh38
Deletion
No
kampmeier_23_ASD/DD/ID_discovery_cases-case14
54 yrs.
M
ASD, developmental delay, and intellectual disability
Birth/neonatal history: premature birth (7 months gestation); large for gestational age with a birth weight of 2600 g (+2.5 SD); birth length of 46 cm (+1.4 SD); clubfeet and hypotonia noted as a neonate. Developmental milestones: developmental delay. Motor and musculoskeletal evaluation: tapering fingers, fifth finger clinodactyly, 2-3 syndactyly, brachydactyly, finger contractures; balance problems; can no longer walk but is still able to stand. Behavioral/psychiatric evaluation: autism spectrum disorder, compulsive behavior. Additional medical history: constipation. Dysmorphic features: large ears/earlobes, deep-set eyes, long face. Growth parameters: height 190 cm (1 SD), weight 79.2 g (0.7 SD for height), BMI 21.9 at 52 years of age.
Severe intellectual disability
75075269
79631618
4556350
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_cases-family29_Twin_1
N/A
N/A
ASD
Case is from a monozygotic twin pair from the Discordant ASD/Discordant NDD diagnostic group. Affected twin has ASD with full-scale IQ of 70, dyslexia, and mild macrocephaly (84th %ile); co-twin has mild macrocephaly (98th %ile), an IQ of 77, as well as a past history of mild language delay described as language impairments specific for ASD and lack of social reciprocity, pretend, or fantasy play (not observed at the time of assessment).
74972850
75926026
953177
GRCh38
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
stamouli_18_ASD/NDD_discovery_controls-family29_Twin_2
N/A
N/A
Control
Control is from a monozygotic twin pair from the Discordant ASD/Discordant NDD diagnostic subgroup
75035474
75832952
797479
GRCh38
Duplication
Yes
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
ceylan_18_DD/ID_discovery_cases-case7
De novo
NPM1P37,RPL37P15,RNU7-48P,NDUFAB1P1,BECN1P2,LYPLA1P3,RNU6-411P,MIR30C2,MIR30A,LINC01626,KRT19P1,RNU4-66P,MIR4282,KNOP1P4,PGAM1P10,RBPMS2P1,KHDC1P1,KHDC1L,RPSAP41,EIF3EP1,SDCBP2P1,PAICSP3,DPPA5,KHDC3L,RPL39P3,RPS6P8,RNU6-975P,RN7SL827P,EEF1A1,RPS27P15,TXNP7,COX7A2,HMGB1P39,MIR4463,UBE2V1P15,RNU1-34P,RPL26P20,RNU6-1338P,RNU6-1016P,RN7SKP163,RNU6-155P,RNA5SP209,RNU6-248P,RNU6-261P,RNU6-84P,GAPDHP42,SDHAF4,SLC25A6P6,LINC00472,KCNQ5-IT1,OOEP,OOEP-AS1,CGAS,MTO1,SLC17A5,TMEM30A,RPS6P7,LMBRD1,COL19A1,FAM135A,SMAP1,B3GAT2,KCNQ5,KCNQ5-AS1,KHDC1,CD109,COL12A1,FILIP1,SENP6,MYO6,IMPG1,HTR1B,MEI4,IRAK1BP1,PHIP,COL9A1,OGFRL1,RIMS1,DDX43,LINC02540
digregorio_17_DD/ID_discovery_cases-DECIPHER_296358
qPCR
Unknown
MIR4282,KNOP1P4,PGAM1P10,RBPMS2P1,KHDC1P1,KHDC1L,RPSAP41,EIF3EP1,SDCBP2P1,PAICSP3,DPPA5,KHDC3L,RPL39P3,RPS6P8,RNU6-975P,RN7SL827P,EEF1A1,RPS27P15,TXNP7,COX7A2,HMGB1P39,MIR4463,UBE2V1P15,RNU1-34P,RPL26P20,RNU6-1338P,RNU6-1016P,RN7SKP163,RNU6-155P,RNA5SP209,RNU6-248P,RNU6-261P,RNU6-84P,HMGN3-AS1,DBIP1,RPL35AP18,AK4P5,RPL17P25,RPSAP72,RNA5SP210,KCNQ5-IT1,OOEP,OOEP-AS1,CGAS,MTO1,SLC17A5,TMEM30A,RPS6P7,HMGN3,LCA5,LINC01621,ELOVL4,TTK,KCNQ5,KCNQ5-AS1,KHDC1,CD109,COL12A1,FILIP1,SENP6,MYO6,IMPG1,HTR1B,MEI4,IRAK1BP1,PHIP,GAPDHP63,BCKDHB,TENT5A,DDX43,LINC02540,SH3BGRL2
engwerda_18_ASD/DD/ID_discovery_cases-caseId011
No validation reported
De novo
RNU7-48P,NDUFAB1P1,BECN1P2,LYPLA1P3,RNU6-411P,MIR30C2,MIR30A,LINC01626,KRT19P1,RNU4-66P,MIR4282,KNOP1P4,PGAM1P10,RBPMS2P1,KHDC1P1,KHDC1L,RPSAP41,EIF3EP1,SDCBP2P1,PAICSP3,DPPA5,KHDC3L,RPL39P3,RPS6P8,RNU6-975P,RN7SL827P,EEF1A1,RPS27P15,TXNP7,COX7A2,HMGB1P39,MIR4463,UBE2V1P15,RNU1-34P,RPL26P20,RNU6-1338P,RNU6-1016P,RN7SKP163,RNU6-155P,RNA5SP209,RNU6-248P,RNU6-261P,RNU6-84P,HMGN3-AS1,DBIP1,RPL35AP18,AK4P5,SDHAF4,SLC25A6P6,LINC00472,KCNQ5-IT1,OOEP,OOEP-AS1,CGAS,MTO1,SLC17A5,TMEM30A,RPS6P7,HMGN3,LCA5,LINC01621,ELOVL4,TTK,FAM135A,SMAP1,B3GAT2,KCNQ5,KCNQ5-AS1,KHDC1,CD109,COL12A1,FILIP1,SENP6,MYO6,IMPG1,HTR1B,MEI4,IRAK1BP1,PHIP,GAPDHP63,BCKDHB,COL9A1,OGFRL1,RIMS1,DDX43,LINC02540,SH3BGRL2
engwerda_18_ASD/DD/ID_discovery_cases-caseId019
No validation reported
Unknown
MIR30C2,MIR30A,LINC01626,KRT19P1,RNU4-66P,MIR4282,KNOP1P4,PGAM1P10,RBPMS2P1,KHDC1P1,KHDC1L,RPSAP41,EIF3EP1,SDCBP2P1,PAICSP3,DPPA5,KHDC3L,RPL39P3,RPS6P8,RNU6-975P,RN7SL827P,EEF1A1,RPS27P15,TXNP7,COX7A2,HMGB1P39,MIR4463,UBE2V1P15,RNU1-34P,RPL26P20,RNU6-1338P,RNU6-1016P,RN7SKP163,RNU6-155P,RNA5SP209,RNU6-248P,RNU6-261P,RNU6-84P,HMGN3-AS1,DBIP1,RPL35AP18,AK4P5,RPL17P25,RPSAP72,RNA5SP210,LINC01526,RNU6-130P,LINC00472,KCNQ5-IT1,OOEP,OOEP-AS1,CGAS,MTO1,SLC17A5,TMEM30A,RPS6P7,HMGN3,LCA5,LINC01621,ELOVL4,TTK,KCNQ5,KCNQ5-AS1,KHDC1,CD109,COL12A1,FILIP1,SENP6,MYO6,IMPG1,HTR1B,MEI4,IRAK1BP1,PHIP,GAPDHP63,BCKDHB,TENT5A,LINC02542,IBTK,OGFRL1,RIMS1,DDX43,LINC02540,SH3BGRL2
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER262261
Both parents
Maternal
Multi-generational
Not segregated
PGAM1P10,RBPMS2P1,KHDC1P1,KHDC1L,RPSAP41,EIF3EP1,SDCBP2P1,PAICSP3,DPPA5,KHDC3L,RPL39P3,RPS6P8,RNU6-975P,RN7SL827P,EEF1A1,RPS27P15,TXNP7,COX7A2,HMGB1P39,MIR4463,UBE2V1P15,RNU1-34P,RPL26P20,RNU6-1338P,RNU6-1016P,RN7SKP163,RNU6-155P,RNA5SP209,RNU6-248P,OOEP,OOEP-AS1,CGAS,MTO1,SLC17A5,TMEM30A,KCNQ5,KCNQ5-AS1,KHDC1,CD109,COL12A1,FILIP1,SENP6,MYO6,IMPG1,DDX43
kampmeier_23_ASD/DD/ID_discovery_cases-case14
Unknown
COL12A1,COX7A2,DBIP1,FILIP1,PHIP,TMEM30A,SH3BGRL2,LCAL1,IRAK1BP1,LCA5,IMPG1,HTR1B,RPS6P7,MYO6,RPL26P20,UBE2V1P15,HMGN3-AS1,HMGB1P39,TMEM30A-DT,MIR4463,RNA5SP209,MEI4,LINC02540,RN7SKP163,RNU6-84P,RNU6-1338P,RNU6-1016P,RNU6-248P,RNU6-155P,RNU6-261P,RNU1-34P,H3P27,HMGN3,SENP6
stamouli_18_ASD/NDD_discovery_cases-family29_Twin_1
qPCR
Unknown
Simplex
Not segregated (CNV also present in unaffected twin)
COX7A2,HMGB1P39,MIR4463,UBE2V1P15,RNU1-34P,RPL26P20,RNU6-1338P,RNU6-1016P,RN7SKP163,RNU6-155P,RNA5SP209,TMEM30A,COL12A1,FILIP1,SENP6,MYO6,IMPG1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
stamouli_18_ASD/NDD_discovery_controls-family29_Twin_2
qPCR
Unknown
Simplex
COX7A2,HMGB1P39,MIR4463,UBE2V1P15,RNU1-34P,RPL26P20,RNU6-1338P,RNU6-1016P,RN7SKP163,RNU6-155P,TMEM30A,COL12A1,FILIP1,SENP6,MYO6
No Animal Model Data Available