22q13.3
Type
DeletionAverage Length
4176167Range
41122568-49565875Associated Human Genes
-Associated Mouse Models
-Autism Reports
2Populations
2 (2 case / 0 control)Individuals
14 (14 case / 0 control)Summary
Summary statement in development
External Links
Reports related to 22q13.3 (2 Reports)
| # | Type | Title | Author, Year |
|---|---|---|---|
| 1 | Major | 22q13.3 deletion syndrome: clinical and molecular analysis using array CGH. | Dhar SU , et al. (2010) |
| 2 | Major | Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder. | Munnich A , et al. (2019) |
22q13.3
Description:
Patients with deletions in the 22q13.3 region (12 of these cases were originally from a cohort of 8550 samples referred to the Kleberg Cytogenetic Laboratory, Houston, TX from September 2005 to September 2007 for clinical aCGH)
Diagnosis:
Developmental delay (DD) and significant speech delay and/or loss of speech present in all cases. 3 cases with additional diagnosis of autism/ASD (1 with PDD-NOS, 2 with autism).
Dhar SU , et al. (2010)Cohort Size: 13
Age Min: 36
Age Max: 372
Average: 124.61538461538
Male: 46
Female: 54
Unknown: -
CNV Size: 8550000
Deletion: 13
Duplication: 0
Total CNV: 13
Discovery Method:
aCGH, FISH
Validation Method:
FISH, partial karyotype, aCGH (Agilent 244K)
Platform: BACs aCGH, Agilent CMA V6 OLIGO, Agilent CMA V7.2 OLIGO
Software: -
Algorithm: -
Geographical Ancestry: NA
22q13.3
Description:
Children and young adults with ASD recruited from 26 day-care hospitals and specialized institutions within the Greater Paris region
Diagnosis:
Diagnosis of ASD based on DSM criteria, with standardized clinical assessment performed using CARS, ADOS, and/or ADI-R
Munnich A , et al. (2019)Cohort Size: 502
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: N/A
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH, karyotyping
Validation Method:
FISH
Platform: Agilent 60K
Software: -
Algorithm: -
Geographical Ancestry: France
dhar_10_DD/ASD_discovery_cases-patient1
Clinical Profile:
Autism/ASD: Yes (diagnosis of autism). Speech delay/loss of speech: Yes. Behavioral issues (such as repetitive behaviors, impaired socialization, hyperactivity, and self-stimulation): Yes. Regression: Yes. Epilepsy/seizures: Yes. Hypotonia: No. Lymphedema: No. Feeding problems: No. Recurrent infections: No. Brain imaging: brain asymmetry with larger size of lateral ventricle compared to the right and loss of normal left temporal horn morphology detected on MRI. Dysmorphic features: none. Growth parameters: Normal.
Cognitive Profile:
Developmental delay
Dhar SU , et al. (2010)Primary Diagnosis: ASD
Age: 9 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 49470414
CNV End: 49565875
CNV Size: 95000
Validation Description: FISH, aCGH (Agilent 244K)
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: SHANK3, ACR, RABL2B
dhar_10_DD/ASD_discovery_cases-patient10
Clinical Profile:
Autism/ASD: N/A (patient did not receive formal neuropsychological evaluation). Speech delay/loss of speech: Yes. Behavioral issues (such as repetitive behaviors, impaired socialization, hyperactivity, and self-stimulation): Yes. Regression: No. Epilepsy/seizures: No. Hypotonia: Yes. Lymphedema: No. Feeding problems: Yes. Recurrent infections: No. Brain imaging: mildly delayed myelination. Dysmorphic features: macrotia, bulbous nose, pointed chin, large hands, small toe nails. Growth parameters: Normal.
Cognitive Profile:
Developmental delay
Dhar SU , et al. (2010)Primary Diagnosis: Developmental delay
Age: 3 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 41336207
CNV End: 49565875
CNV Size: 8230000
Validation Description: FISH, aCGH (Agilent 244K)
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: POLDIP3, CYB5R3, ATP5L2, A4GALT, ARFGAP3, PACSIN2, TTLL1, BIK, MCAT, TSPO, TTLL12, SCUBE1, MPPED1, EFCAB6, SULT4A1, PNPLA5, PNPLA3, SAMM50, PARVB, PARVG, KIAA1644, LDOC1L, PRR5, PRR5-ARHGAP8, ARHGAP8, PHF21B, NUP50, KIAA0930, UPK3A, FAM118A, SMC1B, RIBC2, FBLN1, ATXN10, WNT7B, C22orf26, PPARA, C22orf40, PKDREJ, TTC38, GTSE1, TRMU, CELSR1, GRAMD4, CERK, TBC1D22A, FAM19A5, BRD1, ZBED4, ALG12, CRELD2, PIM3, IL17REL, MLC1, MOV10L1, PANX2, TRABD, SELO, TUBGCP6, HDAC10, MAPK12, MAPK11, PLXNB2, FAM116B, PPP6R2, SBF1, ADM2, MIOX, LMF2, NCAPH2, SCO2, TYMP, ODF3B, KLHDC7B, SYCE3, CPT1B, CHKB, MAPK8IP2, ARSA, SHANK3, ACR, RABL2B
dhar_10_DD/ASD_discovery_cases-patient11
Clinical Profile:
Autism/ASD: N/A (patient did not receive formal neuropsychological evaluation). Speech delay/loss of speech: Yes. Behavioral issues (such as repetitive behaviors, impaired socialization, hyperactivity, and self-stimulation): Yes. Regression: No. Epilepsy/seizures: No. Hypotonia: No. Lymphedema: No. Feeding problems: No. Recurrent infections: No. Dysmorphic features: epicanthal folds, macrotia, bulbous nose. Growth parameters: Normal. Karyotype: ring chromosome 22.
Cognitive Profile:
Developmental delay
Dhar SU , et al. (2010)Primary Diagnosis: Developmental delay
Age: 9 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 41122568
CNV End: 49565875
CNV Size: 8440000
Validation Description: FISH, aCGH (Agilent 244K)
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: NFAM1, RRP7A, SERHL2, POLDIP3, CYB5R3, ATP5L2, A4GALT, ARFGAP3, PACSIN2, TTLL1, BIK, MCAT, TSPO, TTLL12, SCUBE1, MPPED1, EFCAB6, SULT4A1, PNPLA5, PNPLA3, SAMM50, PARVB, PARVG, KIAA1644, LDOC1L, PRR5, PRR5-ARHGAP8, ARHGAP8, PHF21B, NUP50, KIAA0930, UPK3A, FAM118A, SMC1B, RIBC2, FBLN1, ATXN10, WNT7B, C22orf26, PPARA, C22orf40, PKDREJ, TTC38, GTSE1, TRMU, CELSR1, GRAMD4, CERK, TBC1D22A, FAM19A5, BRD1, ZBED4, ALG12, CRELD2, PIM3, IL17REL, MLC1, MOV10L1, PANX2, TRABD, SELO, TUBGCP6, HDAC10, MAPK12, MAPK11, PLXNB2, FAM116B, PPP6R2, SBF1, ADM2, MIOX, LMF2, NCAPH2, SCO2, TYMP, ODF3B, KLHDC7B, SYCE3, CPT1B, CHKB, MAPK8IP2, ARSA, SHANK3, ACR, RABL2B
dhar_10_DD/ASD_discovery_cases-patient12
Clinical Profile:
Patient was ventilator-dependent and unable to move; no beahvior assessment possible. Autism/ASD: N/A (patient did not receive formal neuropsychological evaluation). Speech delay/loss of speech: Yes. Behavioral issues (such as repetitive behaviors, impaired socialization, hyperactivity, and self-stimulation): No. Regression: No. Epilepsy/seizures: Yes. Hypotonia: Yes (neonatal hypotonia). Lymphedema: Yes. Feeding problems: Yes. Recurrent infections: Yes (pneumonia). Dysmorphic features: macrotia, large hands. Growth parameters: Short stature. Karyotype: ring chromosome 22.
Cognitive Profile:
Developmental delay
Dhar SU , et al. (2010)Primary Diagnosis: Developmental delay
Age: 5 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: 8550000
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -
dhar_10_DD/ASD_discovery_cases-patient13
Clinical Profile:
Autism/ASD: No (had formal testing but did not meet criteria for diagnosis). Speech delay/loss of speech: Yes. Behavioral issues (such as repetitive behaviors, impaired socialization, hyperactivity, and self-stimulation): Yes. Regression: No. Epilepsy/seizures: No. Hypotonia: No. Lymphedema: No. Feeding problems: No. Recurrent infections: No. Dysmorphic features: none. Growth parameters: Short stature.
Cognitive Profile:
Developmental delay
Dhar SU , et al. (2010)Primary Diagnosis: Developmental delay
Age: 15 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: NA
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -
dhar_10_DD/ASD_discovery_cases-patient2
Clinical Profile:
Autism/ASD: N/A (patient did not receive formal neuropsychological evaluation). Speech delay/loss of speech: Yes. Behavioral issues (such as repetitive behaviors, impaired socialization, hyperactivity, and self-stimulation): Yes. Regression: Yes. Epilepsy/seizures: No. Hypotonia: No. Lymphedema: No. Feeding problems: No. Recurrent infections: No. Dysmorphic features: macrotia, bulbous nose. Growth parameters: Normal.
Cognitive Profile:
Developmental delay
Dhar SU , et al. (2010)Primary Diagnosis: Developmental delay
Age: 3 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 49470414
CNV End: 49565875
CNV Size: 95000
Validation Description: FISH, aCGH (Agilent 244K)
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: SHANK3, ACR, RABL2B
dhar_10_DD/ASD_discovery_cases-patient3
Clinical Profile:
Autism/ASD: N/A (patient did not receive formal neuropsychological evaluation). Speech delay/loss of speech: Yes. Behavioral issues (such as repetitive behaviors, impaired socialization, hyperactivity, and self-stimulation): Yes. Regression: No. Epilepsy/seizures: No. Hypotonia: Unknown. Lymphedema: No. Feeding problems: Unknown. Recurrent infections: No. Brain imaging: mild thinning of the corpus callosum, mildly delayed myelination. Dysmorphic features: macrotia. Growth parameters: Normal.
Cognitive Profile:
Developmental delay
Dhar SU , et al. (2010)Primary Diagnosis: Developmental delay
Age: 13 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: 504000
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -
dhar_10_DD/ASD_discovery_cases-patient4
Clinical Profile:
Autism/ASD: Yes (diagnosis of autism). Speech delay/loss of speech: Yes. Behavioral issues (such as repetitive behaviors, impaired socialization, hyperactivity, and self-stimulation): Yes. Regression: No. Epilepsy/seizures: No (abnormal EEG, but no clinically apparent seizure disorder). Hypotonia: No. Lymphedema: No. Feeding problems: No. Recurrent infections: No. Dysmorphic features: epicanthal folds, macrotia, bulbous nose, large hands. Growth parameters: Normal.
Cognitive Profile:
Developmental delay
Dhar SU , et al. (2010)Primary Diagnosis: ASD
Age: 9 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 48554059
CNV End: 49565875
CNV Size: 1010000
Validation Description: FISH, aCGH (Agilent 244K)
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: BRD1, ZBED4, ALG12, CRELD2, PIM3, IL17REL, MLC1, MOV10L1, PANX2, TRABD, SELO, TUBGCP6, HDAC10, MAPK12, MAPK11, PLXNB2, FAM116B, PPP6R2, SBF1, ADM2, MIOX, LMF2, NCAPH2, SCO2, TYMP, ODF3B, KLHDC7B, SYCE3, CPT1B, CHKB, MAPK8IP2, ARSA, SHANK3, ACR, RABL2B
dhar_10_DD/ASD_discovery_cases-patient5
Clinical Profile:
Autism/ASD: Yes (diagnosis of PDD-NOS). Speech delay/loss of speech: Yes. Behavioral issues (such as repetitive behaviors, impaired socialization, hyperactivity, and self-stimulation): Yes. Regression: No. Epilepsy/seizures: No. Hypotonia: No. Lymphedema: No. Feeding problems: No. Recurrent infections: Yes (ear infections). Brain imaging: mild thinning of the corpus callosum. Dysmorphic features: macrotia, bulbous nose. Growth parameters: Normal.
Cognitive Profile:
Developmental delay. Developmental quotient (DQ) < 50.
Dhar SU , et al. (2010)Primary Diagnosis: ASD
Age: 3 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 46458243
CNV End: 49499770
CNV Size: 3030000
Validation Description: FISH, aCGH (Agilent 244K)
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: FAM19A5, BRD1, ZBED4, ALG12, CRELD2, PIM3, IL17REL, MLC1, MOV10L1, PANX2, TRABD, SELO, TUBGCP6, HDAC10, MAPK12, MAPK11, PLXNB2, FAM116B, PPP6R2, SBF1, ADM2, MIOX, LMF2, NCAPH2, SCO2, TYMP, ODF3B, KLHDC7B, SYCE3, CPT1B, CHKB, MAPK8IP2, ARSA, SHANK3
dhar_10_DD/ASD_discovery_cases-patient6
Clinical Profile:
Autism/ASD: N/A (patient did not receive formal neuropsychological evaluation). Speech delay/loss of speech: Y. Behavioral issues (such as repetitive behaviors, impaired socialization, hyperactivity, and self-stimulation): Yes. Regression: No. Epilepsy/seizures: No. Hypotonia: Yes. Lymphedema: No. Feeding problems: No. Recurrent infections: No. Dysmorphic features: bulbous nose. Growth parameters: Accelerated growth.
Cognitive Profile:
Developmental delay
Dhar SU , et al. (2010)Primary Diagnosis: Developmental delay
Age: 11 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 46503752
CNV End: 49565875
CNV Size: 3060000
Validation Description: Partial karyotype, aCGH (Agilent 244K)
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: FAM19A5, BRD1, ZBED4, ALG12, CRELD2, PIM3, IL17REL, MLC1, MOV10L1, PANX2, TRABD, SELO, TUBGCP6, HDAC10, MAPK12, MAPK11, PLXNB2, FAM116B, PPP6R2, SBF1, ADM2, MIOX, LMF2, NCAPH2, SCO2, TYMP, ODF3B, KLHDC7B, SYCE3, CPT1B, CHKB, MAPK8IP2, ARSA, SHANK3, ACR, RABL2B
dhar_10_DD/ASD_discovery_cases-patient7
Clinical Profile:
Autism/ASD: N/A (patient did not receive formal neuropsychological evaluation). Speech delay/loss of speech: Yes. Behavioral issues (such as repetitive behaviors, impaired socialization, hyperactivity, and self-stimulation): Yes. Regression: No. Epilepsy/seizures: No. Hypotonia: No. Lymphedema: Yes. Feeding problems: Yes. Recurrent infections: No. Dysmorphic features: epicanthal folds, macrotia, bulbous nose, pointed chin, large hands, small toe nails. Growth parameters: Accelerated growth.
Cognitive Profile:
Developmental delay
Dhar SU , et al. (2010)Primary Diagnosis: Developmental delay
Age: 19 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 43915475
CNV End: 49565875
CNV Size: 5650000
Validation Description: FISH, aCGH (Agilent 244K)
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: NUP50, KIAA0930, UPK3A, FAM118A, SMC1B, RIBC2, FBLN1, ATXN10, WNT7B, C22orf26, PPARA, C22orf40, PKDREJ, TTC38, GTSE1, TRMU, CELSR1, GRAMD4, CERK, TBC1D22A, FAM19A5, BRD1, ZBED4, ALG12, CRELD2, PIM3, IL17REL, MLC1, MOV10L1, PANX2, TRABD, SELO, TUBGCP6, HDAC10, MAPK12, MAPK11, PLXNB2, FAM116B, PPP6R2, SBF1, ADM2, MIOX, LMF2, NCAPH2, SCO2, TYMP, ODF3B, KLHDC7B, SYCE3, CPT1B, CHKB, MAPK8IP2, ARSA, SHANK3, ACR, RABL2B
dhar_10_DD/ASD_discovery_cases-patient8
Clinical Profile:
Autism/ASD: N/A (patient did not receive formal neuropsychological evaluation). Speech delay/loss of speech: Yes. Behavioral issues (such as repetitive behaviors, impaired socialization, hyperactivity, and self-stimulation): Yes. Regression: No. Epilepsy/seizures: Yes. Hypotonia: Yes. Lymphedema: No. Feeding problems: Yes. Recurrent infections: Yes (urinary tract infections). Brain imaging: mildly delayed myelination. Dysmorphic features: bulbous nose, large hands. Growth parameters: Normal.
Cognitive Profile:
Developmental delay
Dhar SU , et al. (2010)Primary Diagnosis: Developmental delay
Age: 5 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 43901019
CNV End: 49565875
CNV Size: 5660000
Validation Description: FISH, aCGH (Agilent 244K)
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: NUP50, KIAA0930, UPK3A, FAM118A, SMC1B, RIBC2, FBLN1, ATXN10, WNT7B, C22orf26, PPARA, C22orf40, PKDREJ, TTC38, GTSE1, TRMU, CELSR1, GRAMD4, CERK, TBC1D22A, FAM19A5, BRD1, ZBED4, ALG12, CRELD2, PIM3, IL17REL, MLC1, MOV10L1, PANX2, TRABD, SELO, TUBGCP6, HDAC10, MAPK12, MAPK11, PLXNB2, FAM116B, PPP6R2, SBF1, ADM2, MIOX, LMF2, NCAPH2, SCO2, TYMP, ODF3B, KLHDC7B, SYCE3, CPT1B, CHKB, MAPK8IP2, ARSA, SHANK3, ACR, RABL2B
dhar_10_DD/ASD_discovery_cases-patient9
Clinical Profile:
Autism/ASD: No (had formal testing but did not meet criteria for diagnosis). Speech delay/loss of speech: Yes. Behavioral issues (such as repetitive behaviors, impaired socialization, hyperactivity, and self-stimulation): Yes. Regression: No. Epilepsy/seizures: Yes. Hypotonia: No. Lymphedema: Yes. Feeding problems: Yes. Recurrent infections: Yes (upper respiratory tract infections). Dysmorphic features: epicanthal folds, macrotia, bulbous nose, pointed chin, large hands, small toe nails. Growth parameters: Normal.
Cognitive Profile:
Developmental delay
Dhar SU , et al. (2010)Primary Diagnosis: Developmental delay
Age: 31 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 43772118
CNV End: 49565875
CNV Size: 5790000
Validation Description: Partial karyotype, aCGH (Agilent 244K)
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: PHF21B, NUP50, KIAA0930, UPK3A, FAM118A, SMC1B, RIBC2, FBLN1, ATXN10, WNT7B, C22orf26, PPARA, C22orf40, PKDREJ, TTC38, GTSE1, TRMU, CELSR1, GRAMD4, CERK, TBC1D22A, FAM19A5, BRD1, ZBED4, ALG12, CRELD2, PIM3, IL17REL, MLC1, MOV10L1, PANX2, TRABD, SELO, TUBGCP6, HDAC10, MAPK12, MAPK11, PLXNB2, FAM116B, PPP6R2, SBF1, ADM2, MIOX, LMF2, NCAPH2, SCO2, TYMP, ODF3B, KLHDC7B, SYCE3, CPT1B, CHKB, MAPK8IP2, ARSA, SHANK3, ACR, RABL2B
munnich_19_ASD_discovery_cases-case18
Clinical Profile:
Case diagnosed with ASD based on DSM criteria. CNV detected by karyotype and FISH analysis (cosmid probe c106G1220P, location 22q13.3, locusSHANK3).
Cognitive Profile:
-
Munnich A , et al. (2019)Primary Diagnosis: ASD
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh37
Gene Content: -
No control populations reported.
No control individuals reported.