10q23.1-q23.2 Copy Number Variation

Description

10q22q23 copy number variation syndrome is a rare genetic syndrome caused by a deletion or duplication affecting 25 protein coding genes. Patients usually suffer from developmental delay and psychiatric disorders as well as facial dyspmorphisms, and cardiac abnormalities.

Genomic location

Assembly:

Coordinates:

Disorder Information from Orphanet

ORPHA:276413 Microdeletion syndrome

OMIM: 612242

Prevalence: Unknown

Definition:

10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.

Phenotypic features:

Obligate (100%)	Very frequent (99–80%)	Frequent (79–30%)	Occasional (29–5%)	Very rare (<4-1%)	Excluded (0%)
-	Macrocephaly Intellectual disability Global developmental delay Language impairment	Hypertelorism Low-set ears Depressed nasal bridge	Microcephaly Epicanthus Microretrognathia Anteverted nares Downslanted palpebral fissures Upslanted palpebral fissure Hypotelorism Autism Arachnodactyly Seizure Cerebellar hypoplasia Failure to thrive Patent ductus arteriosus Tricuspid valve prolapse Talipes Frontal bossing Chiari malformation Atrioventricular canal defect Attention deficit hyperactivity disorder Curved middle phalanx of the 4th toe Breast aplasia Intestinal polyposis Joint hypermobility	-	-

ORPHA:276422 Microduplication syndrome

OMIM:

Prevalence: Unknown

Definition:

A rare, chromosomal anomaly characterized by variable clinical features that may include developmental delay, mild intellectual disability and dysmorphic facial features. In some cases, microcephaly, growth retardation and congenital heart defects have been reported.

Phenotypic features:

Obligate (100%)	Very frequent (99–80%)	Frequent (79–30%)	Occasional (29–5%)	Very rare (<4-1%)	Excluded (0%)
-	Deeply set eye	Hypospadias Ambiguous genitalia Abnormality of the dentition Microcephaly Abnormality of the philtrum Full cheeks Microretrognathia Broad forehead Strabismus Upslanted palpebral fissure Hypotelorism Intellectual disability Global developmental delay Aphasia Abnormal cardiovascular system morphology	Low-set ears Chronic otitis media Abnormal rib morphology Abnormality of the clavicle Tetralogy of Fallot	-	-

Molecular pathway

View on WikiPathways

Gene Information

HGNC	Gene Name	NCBI	Ensembl	UniProt
MAT1A	methionine adenosyltransferase 1A	4143	ENSG00000151224	Q00266
DYDC1	DPY30 domain containing 1	143241	ENSG00000170788	Q8WWB3
DYDC2	DPY30 domain containing 2	84332	ENSG00000133665	Q96IM9
PRXL2A	peroxiredoxin like 2A	84293	ENSG00000122378	Q9BRX8
TSPAN14	tetraspanin 14	81619	ENSG00000108219	Q8NG11
SH2D4B	SH2 domain containing 4B	387694	ENSG00000178217	Q5SQS7
NRG3	neuregulin 3	10718	ENSG00000185737	P56975
GHITM	growth hormone inducible transmembrane protein	27069	ENSG00000165678	Q9H3K2
GPR15LG	G protein-coupled receptor 15 ligand	387695	ENSG00000188373	Q6UWK7
CDHR1	cadherin related family member 1	92211	ENSG00000148600	Q96JP9
LRIT2	leucine rich repeat, Ig-like and transmembrane domains 2	340745	ENSG00000204033	A6NDA9
LRIT1	leucine rich repeat, Ig-like and transmembrane domains 1	26103	ENSG00000148602	Q9P2V4
RGR	retinal G protein coupled receptor	5995	ENSG00000148604	P47804
CCSER2	coiled-coil serine rich protein 2	54462	ENSG00000107771	Q9H7U1
GRID1	glutamate ionotropic receptor delta type subunit 1	2894	ENSG00000182771	Q9ULK0
WAPL	WAPL cohesin release factor	23063	ENSG00000062650	Q7Z5K2
OPN4	opsin 4	94233	ENSG00000122375	Q9UHM6
LDB3	LIM domain binding 3	11155	ENSG00000122367	O75112
BMPR1A	bone morphogenetic protein receptor type 1A	657	ENSG00000107779	P36894
MMRN2	multimerin 2	79812	ENSG00000173269	Q9H8L6
SNCG	synuclein gamma	6623	ENSG00000173267	O76070
ADIRF	adipogenesis regulatory factor	10974	ENSG00000148671	Q15847
FAM25A	family with sequence similarity 25 member A	643161	ENSG00000188100	B3EWG3
GLUD1	glutamate dehydrogenase 1	2746	ENSG00000148672	P00367
SHLD2	shieldin complex subunit 2	54537	ENSG00000122376	Q86V20

Evidence

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