1q21.1-q21.2-distal Copy Number Variation

Description

1q21.1 copy number variation (deletion or duplication) can result in the loss or duplication of up to 7 protein-coding genes, leading to widespread effects on human development. The syndromes are known for a highly variable phenotype especially concerning psychiatric problems.

Genomic location

Assembly:

Coordinates:

Disorder Information from Orphanet

ORPHA:250989 Microdeletion syndrome

OMIM: 612474

Prevalence: Unknown

Definition:

1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.

Phenotypic features:

Obligate (100%)	Very frequent (99–80%)	Frequent (79–30%)	Occasional (29–5%)	Very rare (<4-1%)	Excluded (0%)
-	-	High palate Microcephaly Epicanthus Long philtrum Bulbous nose Wide nasal bridge Deeply set eye Intellectual disability Global developmental delay Frontal bossing Short stature	Inguinal hernia Cryptorchidism Vesicoureteral reflux Hydronephrosis Hydrocephalus Sensorineural hearing impairment Strabismus Cataract Microphthalmia Iris coloboma Depression Autism Anxiety Hand polydactyly Seizure Hypotonia Agenesis of corpus callosum Failure to thrive Intrauterine growth retardation Patent ductus arteriosus Abnormal cardiac septum morphology Talipes equinovarus Toe syndactyly Short foot Foot polydactyly Sleep abnormality Scoliosis Clinodactyly of the 5th finger Attention deficit hyperactivity disorder High hypermetropia Broad hallux phalanx Ankyloglossia Broad thumb Interrupted aortic arch Schizophrenia Joint hypermobility	-	-

ORPHA:250994 Microduplication syndrome

OMIM: 612475

Prevalence: <1 / 1 000 000

Definition:

1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.

Phenotypic features:

Obligate (100%)	Very frequent (99–80%)	Frequent (79–30%)	Occasional (29–5%)	Very rare (<4-1%)	Excluded (0%)
-	Intellectual disability Global developmental delay	Macrocephaly Hypertelorism Frontal bossing	Cryptorchidism Hypospadias Hydrocephalus Strabismus Glaucoma Cataract Autism Hallucinations Seizure Hypotonia Hypertonia Hip dysplasia Failure to thrive Tetralogy of Fallot Talipes equinovarus Gastroesophageal reflux Arthrogryposis multiplex congenita Hip dislocation Attention deficit hyperactivity disorder Schizophrenia	-	-

Molecular pathway

View on WikiPathways

Gene Information

HGNC	Gene Name	NCBI	Ensembl	UniProt
PRKAB2	protein kinase AMP-activated non-catalytic subunit beta 2	5565	ENSG00000131791	O43741
FMO5	flavin containing dimethylaniline monoxygenase 5	2330	ENSG00000131781	P49326
CHD1L	chromodomain helicase DNA binding protein 1 like	9557	ENSG00000131778	Q86WJ1
BCL9	BCL9 transcription coactivator	607	ENSG00000116128	O00512
ACP6	acid phosphatase 6, lysophosphatidic	51205	ENSG00000162836	Q9NPH0
GJA5	gap junction protein alpha 5	2702	ENSG00000265107	P36382
GJA8	gap junction protein alpha 8	2703	ENSG00000121634	P48165

Evidence

Loading citation... [PMID: 21824431]
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