8q21.13-q21.2CNV Type: Deletion
Largest CNV size: 2504000 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
A deletion of unknown origin was identified within this region in a male patient with rolandic epilepsy (Reinthaler et al., 2014).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
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
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
10755642
3
0
3
reinthaler_14_EP_discovery_cases
Epilepsy patients recruited as part of a multi-center effort from Austria, Germany, Australia, and Canada; 98 patients from multiplex families (at least two affected siblings)
281
Cases diagnosed with rolandic epilepsy according to International Classification of Seizures and Epilepsies; 230 cases with rolandic epilepsy, 51 cases with atypical rolandic epilepsy.
N/A
58.72% Male
2504000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
reinthaler_14_EP_discovery_controls
Unscreened population controls
1512
Control
N/A
49.93% Male
2504000
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
perez_baca_25_ASD/DD/ID_discovery_cases
reinthaler_14_EP_discovery_cases
Caucasian
Solid phase hybridization
Illumina HumanOmniExpress BeadChip
PennCNV
Illumina Genome Viewer
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
reinthaler_14_EP_discovery_controls
German
Solid phase hybridization
Illumina HumanOmniExpress BeadChip
PennCNV
Illumina Genome Viewer
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
perez_baca_25_ASD/DD/ID_discovery_cases-case11
12 mos.
F
Developmental delay/intellectual disability
Developmental milestones: mild global developmental delay/intellectual disability. Motor and musculoskeletal evaluation: abnormal muscle tone. Dysmorphic features: broad face, prominent forehead, biparietal narrowing, short and upslanting palpebral fissures, periorbital fullness, wide nasal bridge, flared nostrils, underdeveloped nasal alae, smooth philtrum, thin upper lip vermillion, abnormality of the palmar creases. Growth parameters: short stature.
Mild global developmental delay/intellectual disability
76370797
84990810
8620014
GRCh38
Deletion
No
perez_baca_25_ASD/DD/ID_discovery_cases-case12
3 yrs.
F
Developmental delay/intellectual disability
Developmental milestones: global developmental delay/intellectual disability with motor delay. Language and communication evaluation: nasal speech. Motor and musculoskeletal evaluation: muscular hypotonia, unsteady gait. Behavioral/psychatric evaluation: behavioral abnormality. Dysmorphic features: broad face, prominent forehead, laterally sparse eyebrows, upslanting palpebral fissures, periorbital fullness, abnormally prominent ear helix, wide nasal bridge, narrow nasal tip, flared nostrils, underdeveloped nasal alae, smooth philtrum, abnormality of upper lip vermillion, abnormality of the palmar creases.
Global developmental delay/intellectual disability
76422410
85446272
9023863
GRCh38
Deletion
No
perez_baca_25_ASD/DD/ID_discovery_cases-case7
8 yrs.
F
Developmental delay/intellectual disability
Developmental milestones: global developmental delay/intellectual disability. Motor and musculoskeletal evaluation: abnormal muscle tone, digit abnormality, hyperlordosis, flat feet. Behavioral/psychiatric evaluation: behavioral abnormality. Brain imaging: aplasia/hypoplasia of the corpus callosum, periventricular leukomalacia. Additional medical history: additional nervous system abnormalities, strabismus, myopia. Dysmorphic features: broad face, prominent forehead, biparietal narrowing, laterally sparse eyebrows, upslanting palpebral fissures, eyelid ptosis, periorbital fullness, epicanthal folds, low-set ears, abnormally prominent ear helix, wide nasal bridge, narrow nasal tip, underdeveloped nasal alae, short and smooth philtrum, abnormality of upper lip vermillion (everted upper lip).
Global developmental delay/intellectual disability
74803824
85559465
10755642
GRCh38
Deletion
No
reinthaler_14_EP_discovery_cases-caseAVRE04
N/A
M
Epilepsy
Epilepsy phenotype: rolandic epilepsy.
81604901
84109313
2504413
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
perez_baca_25_ASD/DD/ID_discovery_cases-case11
De novo
ACTBP6,FABP5,FABP4,ZC2HC1A,MRPS28,PAG1,ZFHX4,ZFAND1,ZBTB10,SNX16,CHMP4C,RALYL,MRPL9P1,CKS1BP7,JCHAINP1,IMPA1,IL7,FTH1P11,SLC10A5,RPSAP47,HNRNPA1P4,ZNF704,UBE2HP1,FABP9,FABP12,IMPA1P1,SLC25A51P3,RPL3P9,HNRNPA1P36,RNU7-85P,ZFHX4-AS1,RPS26P34,NIPA2P4,PSMC2P2,MIR3149,THAP12P7,MIR5708,SLC10A5P1,HIGD1AP18,HMGB1P41,LINC01607,PKIA-AS1,LINC01111,PKIA,PMP2,PEX2,LINC01109,LINC01419,LINC02839,RN7SL107P,TPM3P3,RN7SL308P,TPD52,RNU2-71P,RNU6-1040P,RNU11-6P,RNU7-174P,RN7SL41P,RNU6-1220P,RNU6-1213P,LINC02235,LINC02605,STMN2,HEY1
perez_baca_25_ASD/DD/ID_discovery_cases-case12
De novo
CA3,CA1,ACTBP6,FABP5,E2F5,FABP4,ZC2HC1A,MRPS28,PAG1,ZFHX4,ZFAND1,ZBTB10,SNX16,LRRCC1,CHMP4C,RALYL,MRPL9P1,CKS1BP7,JCHAINP1,IMPA1,IL7,FTH1P11,SLC10A5,CA13,RPSAP47,HNRNPA1P4,RBIS,ZNF704,UBE2HP1,FABP9,FABP12,IMPA1P1,SLC25A51P3,RPL3P9,HNRNPA1P36,RNU7-85P,ZFHX4-AS1,RPS26P34,NIPA2P4,PSMC2P2,MIR3149,THAP12P7,MIR5708,SLC10A5P1,HIGD1AP18,HMGB1P41,CA3-AS1,LINC01607,PKIA-AS1,LINC01111,PKIA,PMP2,PEX2,E2F5-DT,LINC01419,LINC02839,RN7SL107P,TPM3P3,RN7SL308P,TPD52,RNU2-71P,RNU6-1040P,RNU11-6P,RNU7-174P,RN7SL41P,RNU6-1220P,RNU6-1213P,LINC02235,LINC02605,STMN2,HEY1
perez_baca_25_ASD/DD/ID_discovery_cases-case7
De novo
CA3,CA2,CA1,ACTBP6,FABP5,E2F5,FABP4,PI15,ZC2HC1A,MRPS28,PAG1,ZFHX4,ZFAND1,ZBTB10,SNX16,CRISPLD1,LRRCC1,CHMP4C,RALYL,MRPL9P1,CKS1BP7,JCHAINP1,IMPA1,IL7,HNF4G,FTH1P11,SLC10A5,CA13,RPSAP47,HNRNPA1P4,MIR2052HG,RBIS,ZNF704,UBE2HP1,FABP9,FABP12,IMPA1P1,SLC25A51P3,RPL3P9,HNRNPA1P36,RNU7-85P,ZFHX4-AS1,RPS26P34,NIPA2P4,PSMC2P2,MIR3149,THAP12P7,MIR5708,SLC10A5P1,HIGD1AP6,HIGD1AP18,HMGB1P41,CA3-AS1,CASC9,LINC01607,PKIA-AS1,LINC01111,PKIA,PMP2,PEX2,LINC01109,E2F5-DT,LINC01419,LINC02839,RN7SL107P,TPM3P3,RN7SL308P,TPD52,RNU2-71P,RNU6-1040P,RNU11-6P,RNU7-174P,PKMP4,RN7SL41P,RNU2-54P,RNU6-1220P,RNU6-1213P,LINC02235,LINC02605,LINC02886,STMN2,HEY1
reinthaler_14_EP_discovery_cases-caseAVRE04
Unknown
Unknown
Unknown
NIPA2P4,RPS26P34,SLC10A5P1,SLC10A5,HNRNPA1P36,HNRNPA1P4,LINC01419,IMPA1P1,IMPA1,ZFAND1,CHMP4C,SNX16,LINC02235
Controls
No Control Data Available
No Animal Model Data Available