Xq27.2-q28CNV Type: Deletion
Largest CNV size: 5900000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function.
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
nagamani_12_DD_discovery_cases
Cases with developmental delay and additional phenotypes with CNVs involving the FMR1 gene.
4
All 4 cases with developmental delay (DD) and language delay. 2/4 cases with behavioral abnormalities.
Range, 5-12 yrs.
25% Male
5900000
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
nagamani_12_DD_discovery_cases
1 Caucasian, 1 South Asian, 2 unknown
aCGH
Custom-designed array manufactured by Agilent and designed in Medical Genetics Laboratory at BCM
qPCR
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
nagamani_12_DD_discovery_cases-case4
12 yrs.
F
Developmental delay
Birth/neonatal history: born at 35 weeks gestation. Developmental milestones: significant delay in language development (1st words at 4 years, still unable to make sentences at 12 years); gross motor milestones mildly delayed (standing at 12 months, walking by 18 months); fine motor milestones met at age-appropriate periods. Behavioral abnormalities: impairments in social interaction, avoidance of eye contact, avoids interaction with other children, stereotypic habits including hand flapping and hand wringing. Epilepsy/seizures: generalized tonic-clonic seizures that have been difficult to control since age of 2 years. Brain imaging: normal. Dysmorphic features: none. Other features: none. Growth parameters: height, 85th %ile; weight, 94th %ile; OFC, 50th %ile. X-chromosome inactivation (XCI; allele A:B ratio): skewed (17:83). Family history: 22-year-old mother with no significant past medical history.
Cognitive deficits
142773651
148673162
5899512
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
nagamani_12_DD_discovery_cases-case4
qPCR
De novo
Unknown
Likely segregated
RN7SKP81,RN7SKP149,PGBD4P6,MTND1P33,MTND2P39,SPANXN3,SLITRK4,HNRNPH1P2,RRM2P4,HNRNPCP10,RN7SKP189,CYCSP44,SPANXN1,SLITRK2,MIR892C,MIR890,MIR888,MIR892A,MIR892B,MIR891B,MIR891A,RNA5SP517,CXorf51B,CXorf51A,MIR513C,MIR513B,MIR513A1,MIR513A2,MIR506,MIR507,MIR508,MIR514B,MIR509-2,MIR509-3,MIR509-1,MIR510,MIR514A1,MIR514A2,MIR514A3,RNU6-382P,FMR1-AS1,RNA5SP524,FTH1P8,RPL7L1P11,AFF2-IT1,SPANXN4,SPANXN2,UBE2NL,ELL2P4,FMR1,FMR1-IT1,FMR1NB,AFF2
Controls
No Control Data Available
No Animal Model Data Available