1p36.31-p36.23CNV Type: Deletion-Duplication
Largest CNV size: 539000 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Two maternally-inherited CNVs involving the CAMTA1 gene was identified in two patients with intellectual disability and ataxia. One of these patients had an additional diagnosis of ASD.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.
Deletion-Duplication
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
al_kateb_24_DD/ID_discovery_cases
Individuals with heterozygous intragenic deletions affecting the CAMTA1 gene (from an initial cohort of 26 previously unreported individuals with CAMTA1 variants).
3
All three individuals with CAMTA1 deletions presented with developmental delay, with one of the three also presenting with intellectual disability, seizures, and stereotypy.
Range, 5 yrs. 3 mos.-15 yrs. 10 mos.
Male
492639
1
0
1
thevenon_12_DD/ID_discovery_cases
Probands with non-progressive congenital ataxia (NPCA); two of these probands are from families with history of NPCA and intellectual disability (ID), one is a sporadic case with no ID.
3
Non-progressive congenital ataxia with or without intellectual disability. One case with ASD.
Range, 4-16 yrs.
33.3% Male
539000
1
1
2
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
al_kateb_24_DD/ID_discovery_cases
2 cases were of Caucasian ancestry, while the third was of Italian and Brazilian ethnicity
Array SNP, CMA
Affymetrix CytoScan HD, Agilent 244 K, Quest
Sanger sequencing
thevenon_12_DD/ID_discovery_cases
France
aCGH, solid phase hybridization
Agilent Human Genome CGH Microarray 105K, Illumina HumanCytoSNP-12 v2.2
CNVPartition V2.4.4
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
qPCR, FISH
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
al_kateb_24_DD/ID_discovery_cases-case19
15 yrs. 10 mos.
M
Developmental delay, intellectual disability, seizures, and stereotypy
Mild strabismus, microcephaly (OFC <3rd %ile, -2.31 SD), motor delay, delayed ability to walk (21 months), fine motor difficulties, speech delay, stereotypies (hand flapping), anxiety, anger outbursts, sleep disturbance (daytime sleepiness), hypotonia, febrile and afebrile seizures (resolved), clumsiness, curly hair, prominent eyes, slightly upslanting palpebral fissures, large ears, anteverted nares, open mouth appearance, pes planus. Family history: of Italian and Brazilian ethnicity, father presented with borderline IQ with limited schooling, hypernasal speech, back problems
Moderate intellectual disability (IQ 40-50)
6822312
7314950
492639
GRCh38
Deletion
Yes
thevenon_12_DD/ID_discovery_cases-proband1
6 yrs.
F
Ataxia + ID
Referred to genetics center for delayed psychomotor development. Developmental milestones: speech delay. Behavioral/psychiatric evaluation: normal social interactions. Brain imaging: no abnormalities on brain CT scan. Family history: second child of non-consanguineous parents with extensive family history of ID on maternal side; sister with right eye strabismus, unsteady gait and behavioral difficulties; brother with neonatal global hypotonia and developmental delay; mother with ID without behavioral abnormalities and ataxic gait. Karyotype: 47, XXX.
IQ 58, VIQ 52, PIQ 57
7136621
7217748
81128
GRCh38
Deletion
Yes
thevenon_12_DD/ID_discovery_cases-proband2
16 yrs.
M
Ataxia + ID + ASD
First child of non-consanguineous parents. Developmental milestones: delayed motor skills (walked at 24 mos.) and speech delay (1st words at 36 mos.). Motor and musculoskeletal evaluation: Scale for Assessment and Rating of Ataxia (SARA) score of 9; ataxic gait, mild dysmetry, instability, polykinetic tendon reflexes, pyramidal symptoms. Behavioral/psychiatric evaluation: ASD; autistic spectrum manifestations, poor interactive skills, aggressiveness. Dysmorphic features: large forehead, palpebral edema, enophtalmia, wide flat nose, short ears, small mouth, abnormally implanted teeth. Growth parameters: macrocephaly. Family history: younger sister presenting with neonatal global hypotonia, mild psychomotor delay and ataxia, delayed speech, normal behavior, and mild ID; mother presenting with mild ataxia.
IQ 40, VIQ 50, PIQ 50
6899725
7439468
539744
GRCh38
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
al_kateb_24_DD/ID_discovery_cases-case19
Sanger sequencing
Paternal
RNU1-8P,CAMTA1
thevenon_12_DD/ID_discovery_cases-proband1
qPCR or FISH
Maternal
Maternal
Multiplex (for ataxia and ID)
Segregated (for ataxia and ID)
CAMTA1
thevenon_12_DD/ID_discovery_cases-proband2
FISH
Maternal
Maternal
Multiplex (for ataxia and ID)
Segregated (for ataxia and ID)
RNU1-8P,CAMTA1-IT1,CAMTA1
Controls
No Control Data Available
No Animal Model Data Available