13q31.3-q32.3CNV Type: Duplication
Largest CNV size: 8200000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A paternally-inherited duplication spanning this region was identified in a 12-year-old male patient presenting with ASD and learning difficulties; the proband's father was reported to have learning difficulties as a child (Atack 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
A novel (paternally inherited) duplication 13q31.3q32.3 in a 12-year-old patient with facial dysmorphism and developmental delay.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
atack_14_ASD_discovery_cases
Second child of healthy, non-consanguineous parents referred to Clinical Genetics service (Sheffield Children's NHS Foundation Trust, Sheffield UK)
1
Learning difficulties, autistic spctrum disorder (diagnostic tools N/A), unexplained muscle cramps with no evidence of a myopathy, and dysmorphic features
12 yrs.
Male
8200000
0
1
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
atack_14_ASD_discovery_cases-case1
12 yrs.
M
ASD and learning difficulties
Case referred to Clinical Genetics service with learning difficulties, autistic spctrum disorder (diagnostic tools N/A), and unexplained muscle cramps with no evidence of a myopathy. Birth/neonatal history: normal antenatal scans; no concerns during pregnancy; born at term; birth weight of 3.28 kg (9th-25th %ile); was well immediately after birth. Developmental milestones: developmental delay; sat up at 10 months, walked at 2 years; delayed speech. Motor and musculoskeletal evaluation: previously examined by Pediatric Neurology department for muscle cramps; no evidence of myopathy (metabolic study results reported as normal). Dysmorphic features: elongated and wide palpebral fissures, elongated columella, bilateral low-set ears, short-webbed neck, box-shaped body habitus. Growth parameters: height of 144.6 cm (25th %ile), weight of 48.7 kg (91st-98th %ile), and head circumference of 51.5 cm (0.4th-2nd %ile). Family history: second child of healthy non-consanguineous White European parents; father noted to have dysmorphic features similar to the case, height of 164 cm (2nd-9th %ile), weight of 66.6 kg (25th-50th %ile), and head circumference of 55 cm (9th %ile), mild-moderate learning difficulties as a child, and surgically-treated congenital diaphragmatic hernia; mother had previous miscarriage at 10-weeks gestation and a still birth of unknown cause at 7-months gestation; healthy older sibling (presence or absence of paternally-inherited 13q31.3-q32.3 duplication not reported).
Learning difficulties; case currently attends a mainstream school but is scheduled to attend a secondary school for children with learning disabilities
92124615
100395251
8270637
GRCh38
Duplication
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
atack_14_ASD_discovery_cases-case1
Possibly paternal
Paternal
Possible multi-generational
Unknown
FABP5P4,MIR548AS,LINC00363,HNRNPA1P29,RNA5SP35,RNA5SP36,RN7SL585P,LINC00391,SOX21,BRD7P5,RPL21P112,LINC00557,RNU6-62P,RNY3P8,RNY4P27,MEMO1P5,MTND5P2,MTND6P18,MTCYBP3,HMGN1P24,RN7SL164P,MIR4501,AMMECR1LP1,HSP90AB6P,RN7SKP7,RNA5SP37,PSMA6P4,RPL7AP61,FTLP8,RNF113B,RN7SKP8,MIR3170,FARP1-AS1,STK24-AS1,NUS1P4,CYCSP35,CALM2P4,RN7SL60P,DOCK9-AS1,RPL7L1P12,RNU6-83P,DOCK9-DT,RPS6P23,GAPDHP22,UBAC2-AS1,RN7SKP9,H2AFZP3,GPR18,MIR623,HMGB3P4,CCR12P,LINC01232,LINC01039,CFL1P8,MIR4306,CLYBL-AS2,CLYBL-AS1,ZIC5,ZIC2,LINC00554,NDUFA12P1,ASNSP3,RPL15P18,GPC5-AS2,GPC5-IT1,GPC5-AS1,GPC6-AS2,GPC6-AS1,DCT,TGDS,SOX21-AS1,CLDN10-AS1,DZIP1,DNAJC3-DT,TULP3P1,LINC00456,RAP2A,IPO5,GPR183,LINC00449,GPR180,ABCC4,CLDN10,DNAJC3,UGGT2,OXGR1,MBNL2,FARP1,SLC15A1,DOCK9,UBAC2,TM9SF2,PCCA,GPC6,HS6ST3,STK24,CLYBL,GPC5
Controls
No Control Data Available
No Animal Model Data Available