15q13.1-q13.3 Copy Number Variation

Description

This region is mainly know for its deletion that causes Prader-Willi syndrome (PWS) and Angelman syndrome (AS). Due to methylation patterns however, different genes are responsible for the two syndromes. For this chromosomal region, also duplications are known. A detailed description of the syndromes in this region and the molecular pathway has been published by Ehrhart et al., 2017 .

Genomic location

Assembly:

Coordinates:

Disorder Information from Orphanet

ORPHA:238446 Microduplication syndrome

OMIM: 608636

Prevalence: <1 / 1 000 000

Definition:

The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.

Phenotypic features:

Obligate (100%)	Very frequent (99–80%)	Frequent (79–30%)	Occasional (29–5%)	Very rare (<4-1%)	Excluded (0%)
-	Compulsive behaviors Delayed speech and language development Intellectual disability Hypotonia Global developmental delay Attention deficit hyperactivity disorder	Autism Seizure Apraxia Clinodactyly of the 5th finger	Macrocephaly Epicanthus Mask-like facies Downslanted palpebral fissures Ataxia Joint hypermobility Short stature Finger syndactyly Abnormal cardiovascular system morphology	-	-

Molecular pathway

View on WikiPathways

Gene Information

HGNC	Gene Name	NCBI	Ensembl	UniProt
APBA2	amyloid beta precursor protein binding family A member 2	321	ENSG00000034053	Q99767
ENTREP2	endosomal transmembrane epsin interactor 2	23359	ENSG00000104059	O60320
NSMCE3	NSE3 component of SMC5/6 complex	56160	ENSG00000185115	Q96MG7
TJP1	tight junction protein 1	7082	ENSG00000104067	Q07157
GOLGA8J	golgin A8 family member J	653073	ENSG00000179938	A6NMD2
GOLGA8T	golgin A8 family member T	653075	ENSG00000261247	H3BQL2
GOLGA8R	golgin A8 family member R	101059918	ENSG00000186399	I6L899
GOLGA8Q	golgin A8 family member Q	727909	ENSG00000178115	H3BV12
GOLGA8H	golgin A8 family member H	728498	ENSG00000261794	P0CJ92
FAN1	FANCD2 and FANCI associated nuclease 1	22909	ENSG00000198690	Q9Y2M0
MTMR10	myotubularin related protein 10	54893	ENSG00000166912	Q9NXD2
TRPM1	transient receptor potential cation channel subfamily M member 1	4308	ENSG00000134160	Q7Z4N2
KLF13	KLF transcription factor 13	51621	ENSG00000169926	Q9Y2Y9
OTUD7A	OTU deubiquitinase 7A	161725	ENSG00000169918	Q8TE49
CHRNA7	cholinergic receptor nicotinic alpha 7 subunit	1139	ENSG00000175344	P36544

Evidence

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