1p22.1-p21.2CNV Type: Deletion
Largest CNV size: 5900000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo 1p22.1-p21.2 deletion encompassing DPYD and MIR137 was identified in a 15-year-old female patient presenting with intellectual disability, hyperphagia and food-seeking behavior, obesity, and postnatal macrocephaly (D'Angelo et al., 2015).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Two New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8;12) among Individuals with Syndromic Obesity.
Deletion
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
d'angelo_15_ID_discovery_cases
Female patients referred to analysis for obesity and intellectual disability that presented with 1p21.3 microdeletions affecting DPYD and MIR137
2
Both individuals presented with intellectual disability, obesity, and postnatal macrocephaly; one case presented with pervasive developmental disorder
Range, 8 yrs. 8 mos.-15 yrs.
Female
5900000
1
0
1
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
d'angelo_15_ID_discovery_cases-case1
15 yrs.
F
Intellectual disability
Birth/neonatal history: born at 40 weeks of gestation by C-section; birth weight 3650 g (50th-75th %ile); neonatal hypotonia. Developmental milestones: psychomotor delay (walked at age of 2 years), speech delay (spoke at age of 2 years). Motor and musculoskeletal evaluation: 5th finger clinodactyly. Behavioral/psychiatric evaluation: hyperphagia, food-seeking behavior. Visual evaluation: myopia. Additional medical history: menarche occurred at age of 10 years. Dysmorphic features: brachycephaly, high forehead. Growth parameters: obesity, postnatal macrocephaly; height of 162 cm (50th-75th %ile), weight of 97 kg (> 97th %ile), OFC of 59 cm (> 98th %ile), BMI of 37.0 (> 95th %ile). Family history: second child born to unrelated healthy parents.
Intellectual disability
93453660
99380620
5926961
GRCh38
Deletion
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
d'angelo_15_ID_discovery_cases-case1
FISH
De novo
RNA5SP53,MIR760,DNTTIP2,CHCHD2P5,MTND4P11,MTND3P21,MTCO3P21,MTATP6P13,MTCO2P21,MTCO1P21,RN7SL440P,GAPDHP29,KATNBL1P2,MIR378G,LINC01760,LINC01650,LINC01761,RNU1-130P,UBE2WP1,EEF1A1P11,RN7SL831P,NDUFS5P2,RPL7P9,RN7SKP270,SEC63P1,RPL26P9,DPYD-AS2,MIR2682,MIR137,NFU1P2,GCLM,F3,SLC44A3,CNN3,RWDD3,DPYD-IT1,LINC01776,PLPPR4,FNBP1L,BCAR3,ABCA4,ARHGAP29,ABCD3,SLC44A3-AS1,ALG14,TMEM56,TMEM56-RWDD3,LINC01787,PTBP2,DPYD-AS1,MIR137HG,SNX7,PLPPR5,DPYD
Controls
No Control Data Available
No Animal Model Data Available