7q11.23-distal Copy Number Variation

Description

Deletion or duplication in this region are rare genetic disorders and can cause different neurological and neuropsychiatric symptoms. Patients are often observed with epilepsy and neurodevelopmental delay.

Genomic location

Assembly:

Coordinates:

Disorder Information from Orphanet

ORPHA:254351 Distal microdeletion syndrome

OMIM: 613729

Prevalence: <1 / 1 000 000

Definition:

Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).

Phenotypic features:

Obligate (100%)	Very frequent (99–80%)	Frequent (79–30%)	Occasional (29–5%)	Very rare (<4-1%)	Excluded (0%)
-	-	Intellectual disability Seizure Specific learning disability	Microcephaly Autism Aggressive behavior Atrial septal defect Patent ductus arteriosus Porencephaly Chiari malformation Attention deficit hyperactivity disorder Bipolar affective disorder	-	-

ORPHA:261102 Distal microduplication syndrome

OMIM:

Prevalence: <1 / 1 000 000

Definition:

Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported.

Phenotypic features:

Obligate (100%)	Very frequent (99–80%)	Frequent (79–30%)	Occasional (29–5%)	Very rare (<4-1%)	Excluded (0%)
-	Delayed speech and language development Intellectual disability, mild Aortic aneurysm	Cryptorchidism Autistic behavior Anxiety Congenital diaphragmatic hernia Hypotonia Attention deficit hyperactivity disorder	Hydrocephalus Patent ductus arteriosus Chiari malformation Frontoethmoidal encephalocele Benign neoplasm of the central nervous system	-	-

Molecular pathway

View on WikiPathways

Gene Information

HGNC	Gene Name	NCBI	Ensembl	UniProt
RHBDD2	rhomboid domain containing 2	57414	ENSG00000005486	Q6NTF9
POR	cytochrome p450 oxidoreductase	5447	ENSG00000127948	P16435
TMEM120A	transmembrane protein 120A	83862	ENSG00000189077	Q9BXJ8
STYXL1	serine/threonine/tyrosine interacting like 1	51657	ENSG00000127952	Q9Y6J8
MDH2	malate dehydrogenase 2	4191	ENSG00000146701	P40926
SRRM3	serine/arginine repetitive matrix 3	222183	ENSG00000177679	A6NNA2
HSPB1	heat shock protein family B (small) member 1	3315	ENSG00000106211	P04792
YWHAG	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma	7532	ENSG00000170027	P61981
SSC4D	scavenger receptor cysteine rich family member with 4 domains	136853	ENSG00000146700	Q8WTU2
ZP3	zona pellucida glycoprotein 3	7784	ENSG00000188372	P21754

Evidence

Loading citation... [PMID: 21109226]
Loading citation... [PMID: 20101691]
Loading citation... [PMID: 27867344]
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