7q31.1-q31.2CNV Type: Deletion
Largest CNV size: 1570000 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
A maternally-inherited deletion containing the FOX2P gene was identified that closely segregates with disease in a family with speech delay and PDD-NOS.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
1523571
0
1
1
rice_11_DD_discovery_cases
Patient with childhood apraxia of speech and PDD-NOS, whose mother has a diagnosis of diagnosis of apraxia of speech, receptive & expressive language delay, PDD-NOS, and specific learning disabilites.
1
Developmental delay [specific diagnosis of childhood apraxia of speech (CAS) and pervasive developmental delay-not otherwise specified (PDD-NOS)]
4 yrs. 10 mos.
Male
1570000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
rice_11_DD_discovery_cases
aCGH
Agilent 2 X 105K custom array
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003933
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
113569777
115093349
1523573
GRCh38
Duplication
Yes
rice_11_DD_discovery_cases-patient1
4 yrs. 10 mos.
M
Developmental delay/PDD-NOS
Diagnosis: childhood apraxia of speech (CAS) and pervasive developmental disorder-not otherwise specified (PDD-NOS). Developmental milestones: normal early fine & gross motor development (independent walking at 14 mos.), severe language delays (concerns about speech & language development first noted at 14 mos.; first word at 24 mos.). ADI-R assessment: scores for Qualitative Abnormalities in Reciprocal Social Interactions subdomain (16), Restricted, Repetitive, and Stereotyped Patterns of Behavior subdomain (2) and Abnormality of Development Evident Before 36 months subdomain (5) were above cut-off criterion for ASD; score for Qualitative Abnormalities in Communication (3) was below ASD cut-off. ADOS assessment: Communication domain score of 1, Social Affect domain score of 4, Restricted & Repetitive Behaviors domains score of 4; combined score of 8 in latter two domains at cut-off for ASD. Language evaluation: assessed using Clinical Evaluation of Language Fundamentals Preschool-2 (CELF Preschool-2); combined receptive language subtests score of 90 (normal); combined expressive language subtests score of 55 (severe expressive language impairment). Motor evaluation: assessed using Miller Function & Participation Scales (M-FUN); age equivalency on visual & motor scale both below the 4-year-old level. Dysmorphic features: nonsyndromic in appearance; mild facial dysmorphism (mild telecanthus, slightly high arched eyebrows, long philtrum). Growth parameters: height, 114.5 cm (99th %ile); weight, 21.2 kg (90th %ile); head circumference, 52 cm (70th %ile). Family history: mother with diagnosis of apraxia of speech, receptive & expressive language delay, PDD-NOS, and specific learning disabilites.
IQ scores (Wechsler Preschool & Primary Scale of Intelligence-III/WISC-III): Full Scale IQ, 71 (3rd %ile); Verbal Scale IQ, 77 (6th %ile); Performance Scale IQ, 75 (5th %ile); Processing Speed IQ, 68 (2nd %ile). Significant strength on Picture Completion subtest, significant weakness in Block Design subtest.
113519229
115093286
1574058
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003933
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNA5SP238,MIR3666,PPP1R3A,MDFIC,LINC01392,LINC01393,FOXP2
rice_11_DD_discovery_cases-patient1
Maternal
Maternal
Unknown
Likely segregated
RNA5SP238,MIR3666,PPP1R3A,MDFIC,LINC01392,LINC01393,FOXP2
Controls
No Control Data Available
No Animal Model Data Available