4q28.3-q31.21CNV Type: Deletion
Largest CNV size: 5376068 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
A de novo deletion spanning this chromosomal loci was observed in a patient from the Deciphering Developmental Disorders (DDD) study that presented with intellectual disability and dysmorphic features (Fitzgerald et al., 2014).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chaves_24_ASD/DD/ID_discovery_cases
CMA read files performed by the Laboratrio Neurogene in Florianpolis, Santa Catarina, Brazil, upon request by medical geneticists and neurologists for investigative/diagnostic purposes, primarily from the Joana de Gusmo Children's Hospital, but also from MDs from the University Hospital Professor Polydoro Ernani de So Thiago and from private clinics in Florianpolis, State of Santa Catarina, betwee
1012
83% of cases presented with developmental delay (DD) and/or intellectual disability (ID), with 33% of cases presented with autism spectrum disorder.
Mean age, 10yrs. (median7.15 yrs., standard deviation10.2).
60.77% Male
5716391
1
0
1
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
5376068
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chaves_24_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
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
chaves_24_ASD/DD/ID_discovery_cases-case875
F
ADHD, developmental delay, and learning disability
Failure to thrive, developmental delay, ADHD, hypermetropia
Specific learning disability.
135295043
141011433
5716391
GRCh38
Deletion
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER261119
N/A
F
Intellectual disability
Intellectual disability; High forehead; Dental crowding; Hypopigmented skin patches
137459522
142835591
5376070
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
chaves_24_ASD/DD/ID_discovery_cases-case875
Unknown
CLGN,ELF2,MAML3,PCDH18,RNF150,SCOC,SETD7,RAB33B,NAA15,MGARP,MGAT4D,ELMOD2,RPS23P2,SLC7A11-AS1,LINC00616,TERF1P3,TNRC18P1,H3P16,RPL14P3,LINC02510,SCOC-AS1,MGST2,NDUFC1,SERF1AP1,KRT18P54,STMN1P2,FTH1P24,TARS2P1,PPP1R14BP3,LINC00613,LINC00499,LINC02511,LINC02172,LINC00498,RN7SKP237,RN7SKP253,UCP1,RNU6-531P,RNU6-506P,RNY1P14,LINC00500,RNU1-89P,RN7SL382P,RNU6-1074P,RN7SL152P,NDUFB4P9,RN7SL311P,RNU6-1214P,RAB33B-AS1,TBC1D9,NOCT,SLC7A11
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER261119
De novo
Simplex
Segregated
LINC00498,RNU6-531P,RN7SL382P,PPP1R14BP3,RN7SL311P,RNU6-506P,RNU6-1074P,MGARP,RNU6-1214P,FTH1P24,RN7SKP237,H3F3AP6,RN7SKP253,NDUFB4P9,RPL14P3,UCP1,RN7SL152P,TNRC18P1,RNY1P14,RPL5P13,LSM3P4,PCDH18,LINC02172,LINC00616,SLC7A11,LINC00500,NOCT,NDUFC1,SCOC-AS1,CLGN,MGAT4D,ELMOD2,ZNF330,LINC02432,LINC02276,SLC7A11-AS1,ELF2,NAA15,SETD7,MGST2,MAML3,SCOC,TBC1D9,RNF150,IL15,LINC00499,RAB33B,INPP4B
Controls
No Control Data Available
No Animal Model Data Available