16p11.2-proximal Copy Number Variation

Description

16p11.2 proximal copy number variation includes 26 protein coding genes. Deletion and duplications in this region confer susceptibility to autism spectrum disorder (ASD) in up to 1% of ASD patients, (Fernandez et al., 2010). The deletions in this region are also associated with severe early-onset obesity (Bochukova et al., 2010).

Genomic location

Assembly:

Coordinates:

Disorder Information from Orphanet

ORPHA:370079 Microduplication syndrome

OMIM: 614671

Prevalence: <1 / 1 000 000

Definition:

Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.

Phenotypic features:

Obligate (100%)	Very frequent (99–80%)	Frequent (79–30%)	Occasional (29–5%)	Very rare (<4-1%)	Excluded (0%)
-	Thin upper lip vermilion Microcephaly Hypertelorism Smooth philtrum Deeply set eye Sparse eyelashes Delayed speech and language development Arachnodactyly Intellectual disability Hypotonia Hyporeflexia Motor delay Tremor Failure to thrive Short stature Microtia Speech articulation difficulties Flat face Abnormal basal ganglia MRI signal intensity Sparse eyebrow Decreased body mass index	Compulsive behaviors Autistic behavior Anxiety Global developmental delay Attention deficit hyperactivity disorder Abnormal visual accommodation	Autism Congenital diaphragmatic hernia Seizure Frontal bossing Scoliosis Bipolar affective disorder Abnormality of the hairline Underdeveloped supraorbital ridges Schizophrenia	Micropenis Hemivertebrae	-

ORPHA:261197 Microdeletion syndrome

OMIM: 611913

Prevalence: Unknown

Definition:

The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

Phenotypic features:

Obligate (100%)	Very frequent (99–80%)	Frequent (79–30%)	Occasional (29–5%)	Very rare (<4-1%)	Excluded (0%)
-	Atypical behavior Autistic behavior Global developmental delay	Macrocephaly Delayed speech and language development Intellectual disability Intellectual disability, mild Motor delay Specific learning disability Severe expressive language delay Attention deficit hyperactivity disorder Speech articulation difficulties Moderate receptive language delay Brain imaging abnormality	Hypertelorism Broad forehead Micrognathia Conductive hearing impairment Sensorineural hearing impairment Autism Abnormal repetitive mannerisms Seizure Choreoathetosis Dystonia Failure to thrive Obesity Abnormal heart morphology Atrial septal defect Abnormal aortic valve morphology Abnormal facial shape Gastroesophageal reflux Ventriculomegaly Enlarged cisterna magna Scoliosis Platybasia Abnormal vertebral morphology Chiari type I malformation Paroxysmal dyskinesia Speech apraxia Midface retrusion Feeding difficulties Reduced social responsiveness Arachnoid cyst	Multicystic kidney dysplasia Cleft palate Congenital diaphragmatic hernia Rib fusion Hand polydactyly Craniosynostosis Dextrocardia Pyloric stenosis Syringomyelia	-

Molecular pathway

View on WikiPathways

Gene Information

HGNC	Gene Name	NCBI	Ensembl	UniProt
SPN	sialophorin	6693	ENSG00000197471	P16150
QPRT	quinolinate phosphoribosyltransferase	23475	ENSG00000103485	Q15274
C16orf54	chromosome 16 open reading frame 54	283897	ENSG00000185905	Q6UWD8
ZG16	zymogen granule protein 16	653808	ENSG00000174992	O60844
KIF22	kinesin family member 22	3835	ENSG00000079616	Q14807
MAZ	MYC associated zinc finger protein	4150	ENSG00000103495	P56270
PRRT2	proline rich transmembrane protein 2	112476	ENSG00000167371	Q7Z6L0
PAGR1	PAXIP1 associated glutamate rich protein 1	79447	ENSG00000280789	Q9BTK6
MVP	major vault protein	9961	ENSG00000013364	Q14764
CDIPT	CDP-diacylglycerol--inositol 3-phosphatidyltransferase	10423	ENSG00000103502	O14735
SEZ6L2	seizure related 6 homolog like 2	26470	ENSG00000174938	Q6UXD5
ASPHD1	aspartate beta-hydroxylase domain containing 1	253982	ENSG00000174939	Q5U4P2
KCTD13	potassium channel tetramerization domain containing 13	253980	ENSG00000174943	Q8WZ19
TMEM219	transmembrane protein 219	124446	ENSG00000149932	Q86XT9
TAOK2	TAO kinase 2	9344	ENSG00000149930	Q9UL54
HIRIP3	HIRA interacting protein 3	8479	ENSG00000149929	Q9BW71
INO80E	INO80 complex subunit E	283899	ENSG00000169592	Q8NBZ0
DOC2A	double C2 domain alpha	8448	ENSG00000149927	Q14183
C16orf92
TLCD3B	TLC domain containing 3B	83723	ENSG00000149926	Q71RH2
ALDOA	aldolase, fructose-bisphosphate A	226	ENSG00000149925	P04075
PPP4C	protein phosphatase 4 catalytic subunit	5531	ENSG00000149923	P60510
TBX6	T-box transcription factor 6	6911	ENSG00000149922	O95947
YPEL3	yippee like 3	83719	ENSG00000090238	P61236
GDPD3	glycerophosphodiester phosphodiesterase domain containing 3	79153	ENSG00000102886	Q7L5L3
MAPK3	mitogen-activated protein kinase 3	5595	ENSG00000102882	P27361

Evidence

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