8q21.11-q21.13CNV Type: Deletion
Largest CNV size: 3370000 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
Summary Information
Summary statement in development
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
Minor Reports
Title
Author, Year
Report Class
CNV Type
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion
Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
9136283
1
0
1
perez_baca_25_ASD/DD/ID_discovery_cases
Individuals with a deletion or duplication affecting the ZFHX4 gene from an initial cohort of 63 individuals (57 probands and 6 affected family members) identified through Clinical Genetics Services worldwide using web-based databases such as GeneMatcher and DECIPHER.
19
Almost all individuals with CNVs affecting ZFHX4 presented with developmental delay/intellectual disability; two individuals also presented with autism spectrum disorder.
Range, 5 mos.-16 yrs.
52.63% Male
7069917
3
0
3
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
7069917
1
0
1
tzetis_12_DD/ID_discovery_cases
Patients referred for aCGH analysis from 2008-present
334
Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
Range, 1 month-38 years (median age of 4 years)
3370000
1
0
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
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
perez_baca_25_ASD/DD/ID_discovery_cases
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
None
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
None
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001072
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
73519300
82655582
9136283
GRCh38
Deletion
Yes
perez_baca_25_ASD/DD/ID_discovery_cases-case3
9 yrs.
M
Developmental delay/intellectual disability
Birth/neonatal history: intrauterine growth retardation. Developmental milestones: moderate global developmental delay/intellectual disability. Abnormal muscle tone: muscular hypotonia, hypertonia, camptodactyly, clinodactyly. Behavioral abnormality: overfriendliness. Additional medical history: strabismus, atrial septal defect, cryptorchidism. Dysmorphic features: prominent forehead, biparietal narrowing, laterally sparse eyebrows, eyelid ptosis, periorbital fullness, low-set and posteriorly rotated ears, abnormally prominent ear helix, wide nasal bridge, narrow nasal tip, flared nostrils, enlarged naris, underdeveloped nasal alae, short philtrum, abnormality of upper lip vermillion, abnormality of the palmar crease. Growth parameters: growth abnormality.
Moderate global developmental delay/intellectual disability
73922528
80992444
7069917
GRCh38
Deletion
No
perez_baca_25_ASD/DD/ID_discovery_cases-case4
16 yrs.
M
Developmental delay/intellectual disability and stereotypy
Developmental milestones: borderline global developmental delay/intellectual disability. Motor and musculoskeletal evaluation: ataxia. Behavioral/psychiatric evaluation: stereotyped behavior. Brain imaging: intracerebral hemorrhage. prominent forehead, biparietal narrowing, laterally sparse eyebrows, short and upslanting palpebral fissures, eyelid ptosis, periorbital fullness, abnormally prominent ear helix, narrow nasal tip, underdeveloped nasal alae, abnormality of upper lip vermillion. Family history: this deletion was inherited from a similarly affected parent.
Borderline global developmental delay/intellectual disability
74544242
77342537
2798296
GRCh38
Deletion
No
perez_baca_25_ASD/DD/ID_discovery_cases-case5
13 yrs.
M
Developmental delay/intellectual disability and stereotypy
Developmental milestones: borderline global developmental delay/intellectual disability. Behavioral abnormality: stereotyped behavior. Dysmorphic features: prominent forehead, biparietal narrowing, laterally sparse eyebrows, hypertelorism, short and upslanting palpebral fissures, eyelid ptosis, periorbital fullness, abnormally prominent ear helix, narrow nasal tip, underdeveloped nasal alae, smooth philtrum, abnormality of upper lip vermillion (thin upper lip), micrognathia, unilateral blepharophimosis. Family history: this deletion was inherited from a similarly affected parent.
Borderline global developmental delay/intellectual disability
74544242
77342537
2798296
GRCh38
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_474
9 yrs.
M
Developmental delay/intellectual disability
Patient originally reported in Quintela et al., 2015c
73922528
80992444
7069917
GRCh38
Deletion
No
tzetis_12_DD/ID_discovery_cases-case76
M
DD/ID
Strabismus, epicanthal folds, low set ears, cryptorchid testes
75941974
79317662
3375689
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001072
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
VENTXP6,RN7SL760P,RPS20P21,RNU6-1300P,RPS3AP32,RNU6-1197P,MIR5681A,MIR5681B,MIR2052,HIGD1AP6,PKMP4,RNU2-54P,LINC01109,MRPL9P1,MIR3149,HIGD1AP18,RNU6-1220P,THAP12P7,RPL3P9,HEY1,RNU7-85P,RN7SL41P,MIR5708,RNU6-1213P,RPSAP47,RNU7-174P,RNU2-71P,SLC25A51P3,RN7SL107P,CKS1BP7,RNU11-6P,RN7SL308P,HMGB1P41,UBE2HP1,FABP4,FTH1P11,NIPA2P4,RPS26P34,SLC10A5P1,SLC10A5,HNRNPA1P36,HNRNPA1P4,GYG1P1,ELOC,TMEM70,LY96,CRISPLD1,PEX2,PKIA,ZC2HC1A,STMN2,LINC01607,ZBTB10,FABP5,PMP2,FABP9,IMPA1P1,IMPA1,ZFAND1,CHMP4C,SNX16,STAU2,UBE2W,JPH1,MIR2052HG,PI15,CASC9,LINC01111,ZFHX4,PKIA-AS1,IL7,MRPS28,TPD52,PAG1,FABP12,LINC02235,GDAP1,ZFHX4-AS1,ZNF704,HNF4G
perez_baca_25_ASD/DD/ID_discovery_cases-case3
De novo
PI15,ZC2HC1A,MRPS28,TMEM70,GDAP1,JPH1,PAG1,ZFHX4,ZBTB10,CRISPLD1,MRPL9P1,CKS1BP7,IL7,HNF4G,PCBP2P2,RPSAP47,MIR2052HG,ZNF704,SLC25A51P3,RPL3P9,RNU7-85P,ZFHX4-AS1,RPS20P21,DSTNP3,RPS3AP32,MIR2052,MIR3149,THAP12P7,MIR5708,MIR5681B,MIR5681A,HIGD1AP6,HIGD1AP18,HMGB1P41,CASC9,LINC01607,PKIA-AS1,LINC01111,PKIA,PEX2,LINC01109,RN7SL107P,RN7SL308P,ELOC,TPD52,RNU6-1300P,RNU2-71P,RNU11-6P,RNU7-174P,PKMP4,RN7SL41P,RNU2-54P,RNU6-1197P,RNU6-1220P,RNU6-1213P,LINC02605,LINC02886,STMN2,HEY1,LY96
perez_baca_25_ASD/DD/ID_discovery_cases-case4
Maternal
Maternal
Segregated
PI15,ZFHX4,CRISPLD1,MRPL9P1,HNF4G,PCBP2P2,MIR2052HG,ZFHX4-AS1,MIR2052,MIR3149,MIR5681B,MIR5681A,HIGD1AP6,HIGD1AP18,CASC9,LINC01111,PEX2,LINC01109,PKMP4,RNU2-54P,LINC02886
perez_baca_25_ASD/DD/ID_discovery_cases-case5
Maternal
Maternal
Segregated
PI15,ZFHX4,CRISPLD1,MRPL9P1,HNF4G,PCBP2P2,MIR2052HG,ZFHX4-AS1,MIR2052,MIR3149,MIR5681B,MIR5681A,HIGD1AP6,HIGD1AP18,CASC9,LINC01111,PEX2,LINC01109,PKMP4,RNU2-54P,LINC02886
quintela_17_DD/ID_discovery_cases-caseID_474
Unknown (not maternal)
Unknown
RPS20P21,RNU6-1300P,RPS3AP32,RNU6-1197P,MIR5681A,MIR5681B,MIR2052,HIGD1AP6,PKMP4,RNU2-54P,LINC01109,MRPL9P1,MIR3149,HIGD1AP18,RNU6-1220P,THAP12P7,RPL3P9,HEY1,RNU7-85P,RN7SL41P,MIR5708,RNU6-1213P,RPSAP47,RNU7-174P,RNU2-71P,SLC25A51P3,RN7SL107P,CKS1BP7,RNU11-6P,RN7SL308P,HMGB1P41,ELOC,TMEM70,LY96,CRISPLD1,PEX2,PKIA,ZC2HC1A,STMN2,LINC01607,ZBTB10,JPH1,MIR2052HG,PI15,CASC9,LINC01111,ZFHX4,PKIA-AS1,IL7,MRPS28,TPD52,PAG1,GDAP1,ZFHX4-AS1,ZNF704,HNF4G
tzetis_12_DD/ID_discovery_cases-case76
De novo
Unknown
RNU2-54P,LINC01109,MRPL9P1,MIR3149,HIGD1AP18,RNU6-1220P,THAP12P7,PEX2,PKIA,ZC2HC1A,LINC01111,ZFHX4,PKIA-AS1,IL7,ZFHX4-AS1
Controls
No Control Data Available
No Animal Model Data Available