7q22.3-q31.1CNV Type: Deletion
Largest CNV size: 2900000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo 7q22.3-q31.3 deletion affecting the KMT2E gene was identified by aCGH in a 7-year-old male patient presenting with developmental delay, intellectual disability, seizures, and multiple structural brain abnormalities (O'Donnell-Luria et al., 2019).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
No Minor Reports
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
2900000
1
0
1
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-case32
7 yrs.
M
DD, ID, and epilepsy
Developmental milestones: developmental delay (walking at 15 months, first words at 36 months). Language and communication evaluation: absence of fluent speech. Motor and musculoskeletal evaluation: tapered fingers, delayed bone age. Behavioral/psychiatric evaluation: frequent crying, irritability. Epilepsy/seizures: seizures. EEG: left temporo-parietal epileptiform activity and slowing. Brain imaging: reduced supratentorial white matter, ventricolomegaly, corpus callosum hypoplasia, right cerebellar hypoplasia, enlargement of the cisterna magna, choroid plexus cysts of the lateral ventricles. Additional medical history: frequent colitis, unilateral cryptorchidism. Dysmorphic features: sparse eyebrows, deep set eyes, impression of hypotelorism, sagging cheeks, prognathism, macroglossia, large ears, prominent columella. Growth parameters: head circumference + 2.9 SD, weight + 2.5 SD, height + 2.4 SD. Note: this case had been previously reported in Uliana et al., European Journal of Human Genetics 2010.
Mild intellectual disability (IQ 55)
104865561
107768412
2902852
GRCh38
Deletion
Yes
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-case32
RT-qPCR
De novo
RN7SL8P,KMT2E-AS1,RWDD4P1,RNU6-1322P,YBX1P2,DCAF13P1,RNU6-392P,LARP1BP2,RNA5SP236,GPR22,WBP1LP2,LHFPL3-AS2,KMT2E,RINT1,EFCAB10,SYPL1,NAMPT,CCDC71L,PIK3CG,HBP1,DUS4L,BANF1P5,SLC26A4-AS1,SLC26A4,CBLL1,SLC26A3,LINC01004,SRPK2,PUS7,ATXN7L1,LINC02577,PRKAR2B,COG5,BCAP29,LHFPL3,CDHR3
Controls
No Control Data Available
No Animal Model Data Available