15q11.2 Copy Number Variation

Description

The 15q11.2 deletion or duplication in htis region involve 4 genes. The deletion is also known as Burnside-Butler syndrome (BBS) (MIM#615656). This region contains NIPA1 and NIPA2, two important magnesium transporters, which are active in the central nervous system. CYFIP1 is an important interactor with FMR1, which is the causative gene for fragile X syndrome (MIM#300624).

Genomic location

Assembly:

Coordinates:

Disorder Information from Orphanet

ORPHA:261183 Microdeletion syndrome

OMIM: 615656

Prevalence: <1 / 1 000 000

Definition:

15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia).

Phenotypic features:

Obligate (100%)	Very frequent (99–80%)	Frequent (79–30%)	Occasional (29–5%)	Very rare (<4-1%)	Excluded (0%)
-	-	Abnormal palate morphology Abnormal pinna morphology Atypical behavior Delayed speech and language development Intellectual disability Global developmental delay Motor delay Abnormal facial shape Memory impairment Thick cerebral cortex Attention deficit hyperactivity disorder Dyslexia Brain imaging abnormality	Microcephaly Broad forehead Autism Autistic behavior Short attention span Seizure Ataxia Abnormal heart morphology Postural instability Poor coordination Self-injurious behavior Schizophrenia	Ventricular septal defect Atrial septal defect Tetralogy of Fallot Coarctation of aorta Dilated fourth ventricle Total anomalous pulmonary venous return	-

Molecular pathway

View on WikiPathways

Gene Information

HGNC	Gene Name	NCBI	Ensembl	UniProt
TUBGCP5	tubulin gamma complex component 5	114791	ENSG00000275835	Q96RT8
CYFIP1	cytoplasmic FMR1 interacting protein 1	23191	ENSG00000273749	Q7L576
NIPA2	NIPA magnesium transporter 2	81614	ENSG00000140157	Q8N8Q9
NIPA1	NIPA magnesium transporter 1	123606	ENSG00000170113	Q7RTP0

Evidence

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