3p13-p12.3CNV Type: Deletion
Largest CNV size: 6282765 bp
Statistics Box:
Number of Reports: 1
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
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
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