7q22.1-q22.3CNV Type: Deletion
Largest CNV size: 2050000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
De novo 7q22.1-q22.3 deletions affecting the KMT2E gene were observed in two unrelated individuals presenting with developmental delay and intellectual disability; one of these individuals was also diagnosed with ASD (O'Donnell-Luria et al., 2019).
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
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
o'donnell-luria_19_ASD/DD/ID/EP_discovery_cases
Individuals with de novo microdeletions encompassing the KMT2E gene (one individual had been previously reported in Uliana et al., European Journal of Human Genetics 2010)
4
All four cases present with developmental delay and intellectual disability; three cases also present with epilepsy, while one case was diagnosed with ASD
Range,7-22 years
50% Male
2050000
2
0
2
Controls
No Control Data Available
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
o'donnell-luria_19_ASD/DD/ID/EP_discovery_cases-case29
12 yrs. 11 mos.
F
ASD, DD, and ID
Developmental milestones: developmental delay (walking at 19 months, first words at 48 months). Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: diagnosis of ASD; behavioral difficulties. Additional medical history: bloating, feeding difficulties (gastrostomy tube), strabismus. Dysmorphic features: flat nasal bridge, epicanthus. Growth parameters: head circumference + 2.4 SD, height -0.1 SD, weight N/A.
Moderate intellectual disability
103714035
105767182
2053148
GRCh38
Deletion
No
o'donnell-luria_19_ASD/DD/ID/EP_discovery_cases-case31
22 yrs.
M
DD, ID, and epilepsy
Birth/neonatal history: neonatal jaundice requiring phototherapy. Developmental milestones: developmental delay (walking at 18 months, first words at 18 months). Language and communication evaluation: fluent speech (3 word sentences at age of 3 years). Behavioral/psychiatric evaluation: no interest in playing with other children. Epilepsy/seizures: absence seizures, tonic-clonic seizures. EEG: generalized spike/polyspike-and-wave complexes. Brain imaging: diffuse cerebral atrophy. Additional medical history: constipation and frequent respiratory infections in childhood. Dysmorphic features: none. Growth parameters: head circumference + 1.1 SD, weight + 1.2 SD, height + 2.0 SD.
Mild-to-moderate intellectual disability
104038699
105907025
1868327
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
o'donnell-luria_19_ASD/DD/ID/EP_discovery_cases-case29
CNV validation not reported
De novo
EIF4BP6,RN7SL8P,KMT2E-AS1,RWDD4P1,RNU6-1322P,YBX1P2,LHFPL3-AS1,LHFPL3-AS2,KMT2E,RINT1,EFCAB10,ORC5,LINC01004,SRPK2,PUS7,ATXN7L1,RELN,LHFPL3
o'donnell-luria_19_ASD/DD/ID/EP_discovery_cases-case31
CNV validation not reported
De novo
EIF4BP6,RN7SL8P,KMT2E-AS1,RWDD4P1,RNU6-1322P,YBX1P2,LHFPL3-AS1,LHFPL3-AS2,KMT2E,RINT1,EFCAB10,ORC5,LINC01004,SRPK2,PUS7,ATXN7L1,LHFPL3,CDHR3
Controls
No Control Data Available
No Animal Model Data Available