21q22.12-q22.13CNV Type: Deletion
Largest CNV size: 1710000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo deletion containing the DYRK1A gene was identified in a male patient with developmental delay/intellectual disability and seizures (Ji et al., 2015).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
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
ji_15_DD/ID/EP/ASD_discovery_cases
Cases with microdeletions of chromosome 21q22.12-q22.3 that include the DYRK1A gene; three unrelated sporadic cases, two familial cases (affected siblings)
5
All five cases present with global developmental delay and/or intellectual disability; four cases present with epilepsy/seizures, and one case with ASD
Range, 17 mos.-5 yrs. 8 mos.
60.00% Male
1710000
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
ji_15_DD/ID/EP/ASD_discovery_cases-patient12
4 yrs. 4 mos.
M
Developmental delay/intellectual disability and seizures
Case present in DECIPHER (257428). Birth/neonatal history: IUGR; birth OFC -2 SD, birth length -1 SD, birth weight -1 SD;feeding difficulties during infancy. Developmental milestones: global developmental delay, severe speech delay. Behavioral/psychiatric evaluation: hyperactivity. Epilepsy/seizures: yes. Brain imaging: brain abnormalities detected on MRI. Additional medical history: pyloric stenosis, constipation, unilateral inguinal hernia. Dysmorphic features: yes. Growth parameters: microcephaly; OFC -4 SD, length -2 SD, and weight -2 SD at time of last follow-up.
Intellectual disability
35737206
37446232
1709027
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
ji_15_DD/ID/EP/ASD_discovery_cases-patient12
FISH
De novo
Simplex
Likely segregated
PPP1R2P2,LINC01436,RPL23AP3,RIMKLBP1,RNU6-992P,CBR1,MEMO1P1,RPS9P1,RPL3P1,SRSF9P1,ATP5MFP1,HLCS-IT1,RNA5SP491,DPRXP5,RNU6-696P,DSCR9,RN7SL678P,CBR3-AS1,CBR3,MORC3,CHAF1B,PSMD4P1,MRPL20P1,RIPPLY3,PIGP,TTC3-AS1,SETD4,DOP1B,CLDN14,HLCS,TTC3,VPS26C,DYRK1A,RUNX1,SIM2
Controls
No Control Data Available
No Animal Model Data Available