CTNNB1-gen: MedlinePlus Genetics (2023)

FAQs

How rare is CTNNB1? ›

Rare disorders like CTNNB1 syndrome often go misdiagnosed or undiagnosed, making it difficult to determine their true frequency in the general population. As molecular genetic testing becomes more widely used, it is estimated that approximately 3 individuals in every 100,000 births may be affected by CTNNB1 syndrome.

Rarely, individuals diagnosed with CTNNB1-NDD have inherited a CTNNB1 pathogenic variant from a parent. Once the CTNNB1 pathogenic variant has been identified in an affected family member, prenatal and preimplantation genetic testing are possible.

The CTNNB1 gene provides instructions for making a protein called beta-catenin. This protein is present in many types of cells and tissues, where it is primarily found at junctions that connect neighboring cells (adherens junctions).

CTNNB1 is the most common cause of misdiagnosed cerebral palsy. CTNNB1 is an autosomal dominant disorder, meaning the mutation of a single gene is enough to cause the disease. CTNNB1 Syndrome is in most cases not inherited but happens spontaneously or »de novo«.

»CTNNB1 is a severe intellectual disability-progressive spastic diplegia syndrome.

CTNNB1 is the name of a gene that is located on the short arm (p) of chromosome 3 at position 22.1 (Cytogenetic Location: 3p22.

Desmoid-type fibromatosis (DF) is a locally aggressive neoplasm characterized by mutations in the CTNNB1 gene, which encodes the β-catenin protein. We reviewed 85 cases of DF and performed Sanger sequencing for detecting mutations in CTNNB1 and immunostaining for detecting β-catenin localization.

Melanoma-intrinsic activated β-catenin pathway, the product of the catenin beta 1 (CTNNB1) gene, has been associated with low/absent tumor-infiltrating lymphocytes, accelerated tumor growth, metastases development, and resistance to anti-PD-L1/anti-CTLA-4 agents in mouse melanoma models.

Catenin beta-1, also known as beta-catenin (β-catenin), is a protein that in humans is encoded by the CTNNB1 gene.

When was CTNNB1 discovered? ›

De novo loss-of-function mutations in the CTNNB1 gene were first discovered in 2012 after diagnostic exome sequencing of individuals with severe intellectual disability [4], and since then the term CTNNB1 Syndrome has become the generic term for all disorders associated with CTNNB1 haploinsufficiency.

Exon 3 of CTNNB1 is a key exon encoding serine-threonine phosphorylation sites for GSK-3β that activates degradation of β-catenin [79]. The CTNNB1 mutations are frequently missense mutations [27].

In particular, the analysis identified two genes — FBXO31 and RHOB — that when mutated are each alone sufficient to cause cerebral palsy. Many of the additional genes carrying mutations were only present in the child with cerebral palsy — meaning they arose randomly — while others were inherited from both parents.

Other progressive disorders that are occasionally misdiagnosed as cerebral palsy are metachromatic leukodystrophy, Pelizaeus-Merzbacher disease, and Rett syndrome. These disorders differ from cerebral palsy in that they cause breakdowns in cognitive and behavior skills, not just motor skills.

In a DNA sequencing study of 50 patients with cerebral palsy, about 1 in 4 had an identifiable genetic cause. Cerebral palsy (CP) has widely been viewed as the result of perinatal oxygen deprivation or other birth-related factors like prematurity.

We report here that overexpression of beta-catenin results in accumulation of p53, apparently through interference with its proteolytic degradation. This effect involves both Mdm2-dependent and -independent p53 degradation pathways, and is accompanied by augmented transcriptional activity of p53 in the affected cells.

Sometimes called spastic diplegia, diplegic cerebral palsy is a version of the disability that is characterized by frequent spasms and muscle tensing. A person with this disorder tends to feel the tension most in their legs.

Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability .

Noonan syndrome is a genetic disorder characterized by short stature, distinctive facial features, heart defects, bleeding problems and skeletal abnormalities. Most individuals with Noonan syndrome have normal intelligence, but some may have special educational needs or intellectual disability.

DYRK1A syndrome is characterized by intellectual disability including impaired speech development, autism spectrum disorder with anxious and/or stereotypic behavior problems, and microcephaly.

What is Wardenburg syndrome? ›

Waardenburg syndrome is a group of conditions passed down through families. The syndrome involves deafness and pale skin, hair, and eye color. Broad nasal bridge, or widening of the base of the nose, is a relative term.

CTNNB1 is the most frequently mutated proto-oncogene in liver cancer (4).

In the presence of Wnt ligand, CTNNB1 is not ubiquitinated and accumulates in the nucleus, where it acts as a coactivator for transcription factors of the TCF/LEF family, leading to activate Wnt responsive genes (By similarity).

What is the difference between desmoid tumors and soft tissue sarcoma? Desmoid tumors are related to a type of cancer called soft tissue sarcoma. Soft tissue sarcomas can metastasize (spread to other parts of the body), while desmoid tumors do not spread.

Lay abstract. Aim: Desmoid tumor (DT) is a rare, locally aggressive benign neoplasm with a high recurrence rate. The majority of cases have mutations in the CTNNB1 gene, but whether these mutations are associated with the risk of recurrence is still unclear.

Inheritance. Neurofibromatosis type 1 is considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the NF1 gene in each cell. In about half of cases, the altered gene is inherited from an affected parent .

A BRAF mutation is a change in a BRAF gene. That change in the gene can lead to an alteration in a protein that regulates cell growth that could allow the melanoma to grow more aggressively. Approximately half of melanomas carry this mutation and are referred to as mutated, or BRAF positive.

Immunotherapy helps the body's natural defence system (immune system) to find and destroy melanoma cells. You have immunotherapy if your melanoma is BRAF negative. If your melanoma is BRAF positive, you may have targeted cancer drugs or immunotherapy.

Approximately one-half of advanced (unresectable or metastatic) melanomas harbor a mutation in the BRAF gene, with V600E being the most common mutation.

Words related to syndrome

ailment, disorder, malady, problem, sickness, affection, complaint, complex, diagnostics, infirmity, prognostics, sign, symptoms.

What is the other name for neural? ›

The word neural has a Greek root, neuron, or "nerve." This scientific term is sometimes used interchangeably with neurological for anything connected with the entire nervous system.

In humans, disease is often used more broadly to refer to any condition that causes pain, dysfunction, distress, social problems, or death to the person affected, or similar problems for those in contact with the person.

However, the discovery of small molecules that directly bind β-catenin and dissociate the β-catenin/TCF4 complex suggests that it may indeed be druggable.

In the canonical Wnt cascade, β-catenin is the key effector responsible for transduction of the signal to the nucleus and it triggers transcription of Wnt-specific genes responsible for the control of cell fate decisions in many cells and tissues.

Besides, β-catenin promotes the progression of tumors via suppressing the T-cell responses [12]. The activity of β-catenin is controlled by a large number of binding partners that affect its stability, cellular localization and transcriptional activity.

β-catenin translocates to the nucleus and interferes with the TCF- LEF co-transcription factors. This leads to the stimulation of several β-catenin target genes (CYCLIN D1, c-MYC, PDK, MTC-1, MMP7, fibronectin, COX-2, AXIN-2) (7, 8, 21, 22) (Figure 2).

Exon 11, which encodes the juxtamembrane domain of KIT, is the most frequently mutated region, affecting 70–75% of GIST^{[5, 6]}. The conformational changes in KIT due to exon 11 mutations disrupt the autoinhibitory domain of the receptor and permit continuous kinase activation.

Mutations in the β-catenin gene (CTNNB1) have been implicated in the pathogenesis of some cancers. The recent development of cancer genome databases has facilitated comprehensive and focused analyses on the mutation status of cancer-related genes.

Frequency. The prevalence of PACS1 syndrome is unknown; more than 30 affected individuals have been described in the scientific literature.

PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.

What is the treatment for BRAF melanoma? ›

Doctors can treat BRAF-positive melanomas with targeted therapy, which is a type of chemotherapy. Targeted therapy uses drugs to attack cancer cells that contain specific mutations. The drugs healthcare professionals use to target BRAF mutations are called BRAF inhibitors.

PACS1 Syndrome is not known to shorten a person's lifespan. People with PACS1 Syndrome will likely need extra help in school, such as special education classes. They will also need to be monitored throughout their lives to make sure they do not develop any additional health issues.

Common facial features include hypertelorism, downslanting palpebral fissures, bulbous nasal tip, low-set and simple ears, smooth philtrum, wide mouth with downturned corners, thin upper vermilion, and wide-spaced teeth. To date approximately 35 individuals with PACS1-NDD have been reported.

Familial dysautonomia occurs primarily in people of Ashkenazi (central or eastern European) Jewish descent. It affects about 1 in 3,700 individuals in Ashkenazi Jewish populations. Familial dysautonomia is extremely rare in the general population.

Likewise, silent mutations that cause such skipping of exon excision have been identified in genes thought to play roles in genetic disorders such as Laron dwarfism, Crouzon syndrome, β⁺-thalassemia, and phenylalanine hydroxylase deficiency (phenylketonuria (PKU)).