HELP     Sign In

3p13-p12.3CNV Type: Deletion


Largest CNV size: 6282765 bp

Statistics Box:
Number of Reports: 1



Summary Information

De novo deletions within this region involving the FOXP1 gene were identified in two individuals presenting with intellectual disability, motor delay, and speech delay; one of this individuals also presented with autistic features (Meerschaut et al., 2017).

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type

No Major Reports

Minor Reports

Title
Author, Year
Report Class
CNV Type
FOXP1-related intellectual disability syndrome: a recognisable entity.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 meerschaut_17_ID_discovery_cases
 Previously unreported cases with de novo deletions affecting the FOXP1 gene
 11
 10/11 cases presented with intellectual disability (ID), motor delay, and delayed speech and language development, 5/11 cases presented with autistic features. One case (patient 9) died due to complications from diaphragmatic hernia at age of 5 months.
 Range, 5 mos.-10 yrs.
 72.72% Male
 6282765
 2
 0
 2

Controls

No Control Data Available

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 meerschaut_17_ID_discovery_cases
  N/A
 aCGH
  N/A
 
 
 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
  meerschaut_17_ID_discovery_cases-patient19
 2 yrs.
 F
 Intellectual disability
 Case also present in DECIPHER database (DECIPHER ID 252324). Birth/neonatal history: born at term with birth weight of 3400 g (10th-50th %ile) (length and head circumference not determined). Developmental milestones: mild/moderate motor delay, delayed speech and language development, expressive language delay. Language and communication evaluation: articulation problems, oromotor dysfunction. Behavioral/psychiatric evaluation: behavioral difficulties. Brain imaging: abnormal. Ophthalmological evaluation: hypermetropia. Additional medical history: failure to thrive, feeding difficulties. Dysmorphic features: broad forehead, prominent forehead, downslanting palpebral fissures, ptosis, blepharophimosis, short hose, broad nasal tip, pronounced vermillion border, downturned corners of the mouth, open mouth, hypoplastic upper ear helix, clinodactyly. Growth parameters: weight 3rd %ile, height 10th %ile, BMI 3rd-10th %ile, head circumference 25th-50th %ile.
 Mild/moderate intellectual disability
 71317346
 74324671
  3007326
 GRCh38
 Deletion
 No
  meerschaut_17_ID_discovery_cases-patient24
 7 yrs.
 M
 Intellectual disability and autistic features
 Birth/neonatal history: born at 32 weeks with a birth weight of 1160 g (length and head circumference at time of birth not determined). Developmental milestones: severe motor delay, delayed speech and language development (absent speech), expressive language delay. Language and communication evaluation: absent speech, oromotor dysfunction. Motor and musculoskeletal evaluation: hypertonia (increased tonicity), spasticity/contractures, hyperreflexia (increased reflexes); clinodactyly. Behavioral/psychiatric evaluation: autistic features. Brain imaging: normal. Ophthalmological evaluation: strabismus. Congenital anomalies: club foot, inguinal hernia, cryptorchidism. Additional medical history: failure to thrive, feeding difficulties, prematurity, listeria infection, BPD. Dysmorphic features: broad forehead, prominent forehead, frontal upsweep of hair, hypertelorism, ptosis, broad nasal tip, pronounced nasolabial folds, pronounced vermillion border, downturned corners of the mouth, open mouth, prominent chin, chin with horizontal crease. Growth parameters: weight <3rd %ile, height <3rd %ile, BMI 3rd-10th %ile, head circumference <3rd %ile.
 Severe intellectual disability
 71164797
 77447561
  6282765
 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
 meerschaut_17_ID_discovery_cases-patient19
 
 
 De novo
 
 
 MIR1284,FOXP1-IT1,GPR27,UBE2Q2P9,RNU1-62P,RNA5SP136,PSMD12P,LAPTM4BP2,FTH1P23,RNU7-19P,EBLN2,RNU6-557P,RNU2-64P,CCDC75P1,RNU6-1270P,RNU7-119P,PDZRN3-AS1,LINC02047,AKR1B1P2,PROK2,LINC00870,RYBP,SHQ1,GXYLT2,LINC02005,EIF4E3,RN7SL271P,LINC00877,PPP4R2,FOXP1,PDZRN3,CNTN3
 
 meerschaut_17_ID_discovery_cases-patient24
 
 
 De novo
 
 
 MIR1284,FOXP1-IT1,GPR27,UBE2Q2P9,RNU1-62P,RNA5SP136,PSMD12P,LAPTM4BP2,FTH1P23,RNU7-19P,EBLN2,RNU6-557P,RNU2-64P,CCDC75P1,RNU6-1270P,RNU7-119P,PDZRN3-AS1,LINC02047,AKR1B1P2,NIPA2P2,RN7SL294P,MIR4444-2,HNRNPA3P6,OR7E66P,OR7E22P,OR7E55P,LSP1P2,SNRPCP10,RPS3AP15,OR7E121P,UNC93B3,CLUHP10,MIR1324,AGGF1P3,RARRES2P1,FRG2C,DUX4L26,MIR4273,RNU6-386P,VDAC1P7,PROK2,LINC00870,RYBP,SHQ1,GXYLT2,LINC02005,MYLKP1,ALG1L6P,FAM86DP,LINC02018,ENPP7P2,LINC00960,EIF4E3,RN7SL271P,LINC00877,PPP4R2,RPL23AP49,ZNF717,FOXP1,FOXP1-AS1,PDZRN3,CNTN3,ROBO2
 

Controls

No Control Data Available
No Animal Model Data Available
HELP
Copyright © 2017 MindSpec, Inc.