17q11.2 Copy Number Variation

Description

The NF1 deletion and duplication can result in a loss of up to 14 protein coding genes, including NF1 (MIM#613113).

Genomic location

Assembly:

Coordinates:

Disorder Information from Orphanet

ORPHA:97685 Microdeletion syndrome

OMIM: 613675

Prevalence: Unknown

Definition:

17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.

Phenotypic features:

Obligate (100%)	Very frequent (99–80%)	Frequent (79–30%)	Occasional (29–5%)	Very rare (<4-1%)	Excluded (0%)
-	Reduced social responsiveness Short attention span Freckling Multiple cafe-au-lait spots	Abnormality of the face Progressive visual loss Atypical behavior Hypertension Thickened skin Specific learning disability Abnormal heart morphology Abnormal facial shape Migraine Headache Memory impairment Sleep abnormality Language impairment Beaking of vertebral bodies T12-L3 Plexiform neurofibroma Lisch nodules Abnormality of central motor function Nevus anemicus Telangiectasia of the skin Papule Brain imaging abnormality	Broad forehead Strabismus Deeply set eye Glaucoma Proptosis Abnormal choroid morphology Blindness Autistic behavior Delayed puberty Abnormality of the vertebral column Thickened cortex of long bones Osteopenia Osteoporosis Hypermelanotic macule Large hands Intellectual disability Seizure Global developmental delay Polyneuropathy Stroke Intrauterine growth retardation Hypertrophic cardiomyopathy Pulmonic stenosis Coarctation of aorta Long foot Renal artery stenosis Abnormal lung morphology Pulmonary arterial hypertension Scoliosis Osteolysis Kyphosis Elevated circulating parathyroid hormone level Short stature Dilatation of the cerebral artery Recurrent subcortical infarcts Focal-onset seizure Atypical neurofibromatosis Retinal vascular proliferation Glioma Optic nerve glioma Cerebellar glioma Brainstem glioma Cerebral artery stenosis Pain Brain neoplasm Multiple mucosal neuromas Narrowing of medullary canal Schwannoma Neurofibrosarcoma Renovascular hypertension Abnormality of the sphenoid sinus Abnormal internal carotid artery morphology	Leukemia Pheochromocytoma Rhabdomyosarcoma Myelodysplasia Bowing of the legs Glomus jugular tumor Breast carcinoma Depressed nasal bridge Wide intermamillary distance Diaphyseal dysplasia Gastrointestinal stroma tumor Dural ectasia Hypertelorism Low-set ears Webbed neck Downslanted palpebral fissures Precocious puberty	-

ORPHA:139474 Microduplication syndrome

OMIM: 618874

Prevalence: <1 / 1 000 000

Definition:

17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.

Phenotypic features:

Obligate (100%)	Very frequent (99–80%)	Frequent (79–30%)	Occasional (29–5%)	Very rare (<4-1%)	Excluded (0%)
-	-	Microcephaly Abnormality of dental enamel Intellectual disability Global developmental delay Short stature Enamel hypoplasia	Macroorchidism Thin vermilion border Malar flattening Sparse eyelashes Delayed speech and language development Seizure Deviated nasal septum Thick nasal alae Bifid nose Sparse eyebrow	-	-

Molecular pathway

View on WikiPathways

Gene Information

HGNC	Gene Name	NCBI	Ensembl	UniProt
CRLF3	cytokine receptor like factor 3	51379	ENSG00000176390	Q8IUI8
ATAD5	ATPase family AAA domain containing 5	79915	ENSG00000176208	Q96QE3
TEFM	transcription elongation factor, mitochondrial	79736	ENSG00000172171	Q96QE5
ADAP2	ArfGAP with dual PH domains 2	55803	ENSG00000184060	Q9NPF8
RNF135	ring finger protein 135	84282	ENSG00000181481	Q8IUD6
NF1	neurofibromin 1	4763	ENSG00000196712	P21359
OMG	oligodendrocyte myelin glycoprotein	4974	ENSG00000126861	P23515
EVI2B	ecotropic viral integration site 2B	2124	ENSG00000185862	P34910
EVI2A	ecotropic viral integration site 2A	2123	ENSG00000126860	P22794
RAB11FIP4	RAB11 family interacting protein 4	84440	ENSG00000131242	Q86YS3
MIR365BHG	MIR365B and MIR4725 host gene	123464515	ENSG00000228768
COPRS	coordinator of PRMT5 and differentiation stimulator	55352	ENSG00000172301	Q9NQ92
UTP6	UTP6 small subunit processome component	55813	ENSG00000108651	Q9NYH9
SUZ12	SUZ12 polycomb repressive complex 2 subunit	23512	ENSG00000178691	Q15022

Evidence

Loading citation... [PMID: 8116612]
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