4q31.1-q31.21CNV Type: Duplication
Largest CNV size: 1600000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo 1.6 Mb duplication within the 4q31.1-q31.21 locus was identified in a male proband presenting with global developmental delay, macrocephaly, dysmorphic features, and structural brain abnormalities (DiGregorio et al., 2017).
Additional Locus Information
References
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
1600000
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
2736062
1
0
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
digregorio_17_DD/ID_discovery_cases-DECIPHER_300731
N/A
M
Developmental delay
Global developmental delay, facial dysmorphic features, reduced growth and weight gain in the first years of age, macrocephaly, abnormalities of the ectodermal tissues compatible with mild ectodermal dysplasia, central hypothyroidism, and hypoplasia of adenohypophysis and neurohypophysis and pituitary stalk hypoplasia on brain MRI
139175681
140790030
1614350
GRCh38
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
krumm_15_ASD_discovery_controls-control13391.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
139695196
142431259
2736064
GRCh38
Deletion
Yes
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
digregorio_17_DD/ID_discovery_cases-DECIPHER_300731
qPCR
De novo
RN7SL311P,RNU6-506P,RNU6-1074P,MGARP,RNU6-1214P,FTH1P24,RN7SKP237,H3F3AP6,RN7SKP253,NDUFB4P9,RPL14P3,UCP1,RN7SL152P,TNRC18P1,RNY1P14,NDUFC1,SCOC-AS1,CLGN,MGAT4D,ELMOD2,ELF2,NAA15,SETD7,MGST2,MAML3,SCOC,TBC1D9,RAB33B
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
krumm_15_ASD_discovery_controls-control13391.s1
1M-Duov3
De novo
H3F3AP6,RN7SKP253,NDUFB4P9,RPL14P3,UCP1,RN7SL152P,TNRC18P1,RNY1P14,RPL5P13,LSM3P4,SCOC-AS1,CLGN,MGAT4D,ELMOD2,ZNF330,LINC02432,LINC02276,MGST2,MAML3,SCOC,TBC1D9,RNF150,IL15,INPP4B
No Animal Model Data Available