2q22.3-q23.2CNV Type: Duplication
Largest CNV size: 2000000 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Large duplications in this region were identified in a autistic female and a male with developmental delay.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Severe intellectual disability and autistic features associated with microduplication 2q23.1.
Duplication
Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.
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
chung_11_ASD/DD_discovery_cases
Two patients with developmental delay and autistic features and microduplication 2q23.1
2
Developmental delay, hypotonia, and autistic features
Range, 8-17 yrs.
50% Male
2000000
0
2
2
hodge_13_DD/ID/ASD_discovery_cases
Previously unpublished patients with 2q23.1/MBD5 microdeletions from the Mayo Clinic Cytogenetics Laboratory (cases 1-8), the Greenwood Genetic Center (cases 9-12), Pathology Associates Medical Laboratories (cases 13-14), Virginia Commonwealth University (case 15), Fullerton Genetics Center (case 16), and Boston Children's Hospital (case 17)
17
Phenotypes typically associated with 2q23.1 microdeletion syndrome (developmental delay/intellectual disability (DD/ID), ASD or autistic features, etc.). Two cases with bipolar disorder, one case with behavioral regression.
Range, <1 yr.-44 yrs.
52.94% Male
1859674
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chung_11_ASD/DD_discovery_cases
50% Scottish, 50% African-Caribbean/British (n=1), Caucasian/German & Polish (n=1)
aCGH
Agilent 4x44K, GeneDx whole-genome microarray
ADM-1
DNA Analytics v4.0
FISH
hodge_13_DD/ID/ASD_discovery_cases
N/A
aCGH, array SNP
Agilent 180K, Agilent 44K, Agilent 105K, Oxford Gene Technology Plus 105K, Affymetrix 6.0, Affymetrix Cytoscan HD
FISH, qPCR, array SNP (Affymetrix Cytoscan HD Array )
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
chung_11_ASD/DD_discovery_cases-patient1
17 yrs.
F
Autism
Diagnosis of autism confirmed following assessment at age of 8 years. Birth/neonatal history: no complications during pregnancy, delivered at 40 weeks gestation; remained in hospital for 2 weeks due to poor feeding and hypotonia. Developmental milestones: delays in all areas of development; walked independently at 10 months; stated climbing stairs at 4 years; first word at 2 years. Language & communication skills: limited vocabulary (total of 20 words) that was used infrequently and inconsistently, rare usage of verbal requests; failure to point at pictures or objects. Motor skills: no limitation of joint movement; normal tone & muscle bulk; wide-based gait; deep tendon reflexes 2+ bilaterally; flexor plantar responses. Behavioral/psychiatric characteristics: increasing aggression and emotional instability, poor eye contact, display of some obsessive tendencies. Vineland Adaptive Behaviour Scales: functional development in age range of 1-2 years. Brain MRI (8 years): normal. Normal vision and hearing. Epilepsy/seizures: none. Dysmorphic features: low-lying anterior hairline, arched eyebrows, bilateral ptosis, bulbous nasal tip, prominent lips, mild retrognathia. Growth parameters: height, 162.3 cm (50th %ile); weight, 46.7 kg (3rd-10th %ile); head circumference, 53.5 cm (25th %ile). Family history: only child born to healthy non-consanguineous parents; maternal half-sister diagnosed with mild developmental delay; unremarkable family history otherwise.
Global developmental delay/severe intellectual disability
147934229
149486528
1552300
GRCh38
Duplication
Yes
chung_11_ASD/DD_discovery_cases-patient2
8 yrs.
M
Developmental delay
Birth/neonatal history: pregnancy complicated by mild vaginal spotting, born at 40 weeks gestation with no complications, poor neonatal feeding, hypotonia, gastro-esophageal refulx with recurrent vomiting in 1st year of life. Developmental milestones: global developmental delay; sat unsupported at 10 months; crawled at 22 months; unable to walk or talk until 2 years of age; toilet trained at 4.5 years. Language & communication skills: performing at a senior kindergarten level for reading and writing. Motor skills: fine motor delay, mild persistent hypotonia, poor coordination, wide-based gait. Behavioral/psychiatric characteristics: personality described as 'friendly and social'. EEG: normal. Head CT: skull asymmetry, no evidence of craniosynostosis. Brain MRI (2 yrs.): mild right-sided hemiatrophy. Vision: diagnosed with strabismus and astigmatism. Dysmorphic features: subtle facial asymmetry, right hemifacial microsomia, strabismus, high arched palate, dental crowding, long nose with prominent tip, cafe-au-lait spot on right thorax, bilateral 5th finger clinodactyly, hint of fetal fat pads on two to fourth fingers bilaterally, large great toes. Growth parameters: height, 144.5 cm (>98th %ile); weight, 39 kg (>98th %ile); head circumference, 55.5 cm (>98th %ile). Family history: second child of non-consanguineous parents; healthy older brother; family history is positive for learning difficulties on the maternal side (mother, two of her brothers, and her father); unremarkable family history otherwise.
Global developmental delay/severe intellectual disability
147712171
149623732
1911562
GRCh38
Duplication
No
hodge_13_DD/ID/ASD_discovery_cases-case11
20 yrs.
F
DD/ID/ASD
New phenotypic features: flat occiput.
147832157
149601110
1768954
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
chung_11_ASD/DD_discovery_cases-patient1
FISH
Unknown (not maternal)
Multiplex for DD (half-sister with mild developmental delay)
Not segregated with DD (half-sister lacks duplication)
RPS29P8,RNU2-9P,UBBP3,TXNP5,FAM8A3P,ORC4,MBD5,EPC2,LYPD6B,LYPD6,KIF5C
Increased expression of MBD5 and EPC2
chung_11_ASD/DD_discovery_cases-patient2
De novo
Simplex
Segregated
RNA5SP106,RNU6-1275P,RPS29P8,RNU2-9P,UBBP3,TXNP5,FAM8A3P,RNU6-601P,MMADHC,ORC4,MBD5,EPC2,LYPD6B,LYPD6,ACVR2A,KIF5C
hodge_13_DD/ID/ASD_discovery_cases-case11
qPCR
De novo
Unknown
Unknown
RNU6-1275P,RPS29P8,RNU2-9P,UBBP3,TXNP5,FAM8A3P,MMADHC,ORC4,MBD5,EPC2,LYPD6B,LYPD6,ACVR2A,KIF5C
Controls
No Control Data Available
No Animal Model Data Available