1q21.1 deletion syndrome

1q211q21.1
1q21.1 deletion syndrome is a rare aberration of chromosome 1.wikipedia
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1q21.1 copy number variations

q21.1 deletion/duplication
The syndrome is a form of the 1q21.1 copy number variations, and it is a deletion in the distal area of the 1q21.1 part.

Chromosome 1

1first chromosomehuman chromosome 1
1q21.1 deletion syndrome is a rare aberration of chromosome 1.

Schizophrenia

schizophrenicschizophrenicspositive symptoms
There may be a relation between autism and schizophrenia.
Around 5% of cases of schizophrenia are understood to be at least partially attributable to rare copy number variants (CNVs), including 22q11, 1q21 and 16p11.

Cataract

cataractscataract surgerycongenital cataracts
Examples of chromosome abnormalities associated with cataracts include 1q21.1 deletion syndrome, cri-du-chat syndrome, Down syndrome, Patau's syndrome, trisomy 18 (Edward's syndrome), and Turner's syndrome, and in the case of neurofibromatosis type 2, juvenile cataract on one or both sides may be noted.

Neuroblastoma

Neuroepitheliomaa rare form of cancerCNS Neuroblastoma
Neuroblastoma has been linked to copy-number variation within the NBPF10 gene, which results in the 1q21.1 deletion syndrome or 1q21.1 duplication syndrome.

Haploinsufficiency

haploinsufficienthaplosufficiencyhaplo-insufficient

PRKAB2

Genes related to 1q21.1 deletion in the distal area are PDE4DIP, HYDIN2, PRKAB2, PDIA3P, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, NBPF10, GPR89B, GPR89C, PDZK1P1 and NBPF11.

1q21.1 duplication syndrome

On the other side, autism is significantly more common with 1q21.1 duplication syndrome.
Next to the duplication syndrome, there is also a 1q21.1 deletion syndrome.

GJA8

Genes related to 1q21.1 deletion in the distal area are PDE4DIP, HYDIN2, PRKAB2, PDIA3P, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, NBPF10, GPR89B, GPR89C, PDZK1P1 and NBPF11.

NBPF10

Genes related to 1q21.1 deletion in the distal area are PDE4DIP, HYDIN2, PRKAB2, PDIA3P, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, NBPF10, GPR89B, GPR89C, PDZK1P1 and NBPF11.
It is assumed to be related to the 1q21.1 deletion syndrome and 1q21.1 duplication syndrome.

GJA5

Cx40
Genes related to 1q21.1 deletion in the distal area are PDE4DIP, HYDIN2, PRKAB2, PDIA3P, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, NBPF10, GPR89B, GPR89C, PDZK1P1 and NBPF11.

Myomegalin

PDE4DIP
Genes related to 1q21.1 deletion in the distal area are PDE4DIP, HYDIN2, PRKAB2, PDIA3P, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, NBPF10, GPR89B, GPR89C, PDZK1P1 and NBPF11.

FMO5

Genes related to 1q21.1 deletion in the distal area are PDE4DIP, HYDIN2, PRKAB2, PDIA3P, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, NBPF10, GPR89B, GPR89C, PDZK1P1 and NBPF11.

CHD1L

Alc1
Genes related to 1q21.1 deletion in the distal area are PDE4DIP, HYDIN2, PRKAB2, PDIA3P, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, NBPF10, GPR89B, GPR89C, PDZK1P1 and NBPF11.
With 1q21.1 deletion syndrome a disturbance occurs, which leads to increased DNA breaks.

Lysophosphatidic acid phosphatase type 6

ACP6
Genes related to 1q21.1 deletion in the distal area are PDE4DIP, HYDIN2, PRKAB2, PDIA3P, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, NBPF10, GPR89B, GPR89C, PDZK1P1 and NBPF11.

GPR89B

Genes related to 1q21.1 deletion in the distal area are PDE4DIP, HYDIN2, PRKAB2, PDIA3P, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, NBPF10, GPR89B, GPR89C, PDZK1P1 and NBPF11.

DUF1220

NBPF repeat
Research is done on 10–12 genes on 1q21.1 that produce DUF1220-locations.
This has led to several conditions that involve this region being identified, including TAR syndrome and the more general classifications of 1q21.1 deletion syndrome and 1q21.1 duplication syndrome.

BCL9

Genes related to 1q21.1 deletion in the distal area are PDE4DIP, HYDIN2, PRKAB2, PDIA3P, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, NBPF10, GPR89B, GPR89C, PDZK1P1 and NBPF11.

Phenotype

phenotypicphenotypesphenotypically
The CNV leads to a very variable phenotype, and the manifestations in individuals are quite variable.

TAR syndrome

Thrombocytopenia absent radiusThrombocytopenia with Absent Radius

Microcephaly

microcephalicmicroencephalysmall head
The aspect of the size and development of the brain is related to autism (macrocephaly) and schizophrenia (microcephaly).

Müllerian agenesis

MRKHMayer-Rokitansky-Küster-Hauser syndromeMayer–Rokitansky–Küster–Hauser syndrome

Meiosis

meioticsyzygymeiosis I
Meiosis is the process of dividing cells in humans.

Deletion (genetics)

deletiondeletionsmicrodeletion
In this second random process the DNA will be scrambled in a way that pieces are omitted (deletion), added (duplication), moved from one place to another (translocation) and inverted (inversion).