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Dyskeratosis CongenitaMutationPoint MutationMutation, MissenseFrameshift MutationNuclear ProteinsTelomeraseCell Cycle ProteinsDNA Mutational AnalysisGerm-Line MutationPedigreePolymorphism, Single-Stranded ConformationalHeterozygoteExonsRNA, Ribosomal, 28SPolymerase Chain ReactionBase SequenceMolecular Sequence DataTelomereGenes, p53Mutation RateAmino Acid SubstitutionGenetic TestingAllelesGenotypeHomozygoteCodon, NonsensePhenotypeSequence Analysis, DNAAmino Acid SequenceGenes, RecessiveMutagenesis, Site-DirectedSequence DeletionCodonMutagenesisDNA PrimersGenes, DominantGenetic Predisposition to DiseaseDNA, NeoplasmGene DeletionSyndromeDNA-Binding ProteinsChromosome MappingMembrane ProteinsProtein Structure, TertiaryFounder EffectConsanguinityFamily HealthHeterozygote DetectionPolymorphism, GeneticCell LineGene FrequencyDNAModels, MolecularEscherichia coliTumor Suppressor Protein p53Transcription FactorsGenetic LinkageAge of OnsetGenes, BRCA1Proto-Oncogene Proteins B-rafSuppression, GeneticGenetic Diseases, X-LinkedSequence Homology, Amino AcidGenetic Complementation TestAsian Continental Ancestry GroupMicrosatellite RepeatsBinding SitesPolymorphism, Restriction Fragment LengthMutant ProteinsCarrier ProteinsGenes, APCDNA, MitochondrialPenetranceSequence AlignmentExomeCloning, MolecularGenes, rasIntronsMutagensModels, GeneticLoss of HeterozygosityProto-Oncogene ProteinsBacterial ProteinsProtein BindingTransfectionColorectal Neoplasms, Hereditary NonpolyposisEye ProteinsGenetic VariationSaccharomyces cerevisiaePlasmidsMutagenesis, InsertionalRNA, MessengerImmunohistochemistryGenes, BRCA2MutS Homolog 2 ProteinJewsDNA Mismatch RepairPromoter Regions, GeneticGenes, Lethal

Dyskeratosis congenitaTERCTERTDyskerinTINF2NOP10RTEL1HomozygousGermlineTelomeresHeterozygousHoyeraal-HreidarssonPARNPulmonaryAplastic anemiaSevereProtein encodedMissenseSyndromeAutosomal dominantExomeAbnormalitiesSporadicBoneSnoRNPsDrosophilaVariantSequencingFunctionalXq28NovoClinicalExpressionFunctionReplicationPatients

Dyskeratosis congenita20

• Mutations in this gene cause X-linked dyskeratosis congenita. (wikipedia.org)
• In about half of people with dyskeratosis congenita, the disorder is caused by mutations in the TERT , TERC , DKC1 , or TINF2 gene. (medlineplus.gov)
• In a small number of individuals with dyskeratosis congenita, mutations in other genes involved with telomere maintenance have been identified. (medlineplus.gov)
• Other affected individuals have no mutations in any of the genes currently associated with dyskeratosis congenita. (medlineplus.gov)
• Mutations in the telomerase accessory component, DKC1 , the dyskeratosis congenita 1 gene, can also manifest as IPF, underscoring the important role of telomere dysfunction in IPF pathogenesis [ 10 ]. (ersjournals.com)
• Loss of function mutations of human DKC1 gene cause Dyskeratosis Congenita X-linked (X-DC), a multisystemic syndrome accompanied by telomerase defects, premature aging, increased cancer susceptibility and stem cell dysfunction. (unina.it)
• TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. (cdc.gov)
• Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenita. (cdc.gov)
• Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita. (cdc.gov)
• Brault ME, Lauzon C, Autexier C. Dyskeratosis congenita mutations in dyskerin SUMOylation consensus sites lead to impaired telomerase RNA accumulation and telomere defects. (medscape.com)
• Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. (medscape.com)
• Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. (medscape.com)
• CTC1 Mutations in a patient with dyskeratosis congenita. (medscape.com)
• Eight dyskeratosis congenita genes ( DKC1 (dyskeratosis congenita 1), TERC (telomerase RNA component), TERT (telomerase reverse transcriptase), NOP10 (nucleolar protein 10), NHP2 , TINF2 (TERF1-interacting nuclear factor 2), TCAB1 and RTEL1 (regulation of telomere elongation helicase 1)) have already been identified, and their mutations account for ∼60% of all dyskeratosis congenita cases [ 1 ]. (ersjournals.com)
• Among the dyskeratosis congenita genes, mutations in TERC , TERT and DKC1 have recently been reported to be associated with familial pulmonary fibrosis and idiopathic pulmonary fibrosis, and pulmonary fibrosis is recognised as one of the features of dyskeratosis congenita. (ersjournals.com)
• However, the relationship between mutations in the other dyskeratosis congenita genes and pulmonary fibrosis has not yet been clarified. (ersjournals.com)
• To the best of our knowledge, this is the first case report describing a dyskeratosis congenita patient with pulmonary fibrosis who had a TINF2 mutation. (ersjournals.com)
• Identification of a novel mutation in DKC1 in dyskeratosis congenita. (lu.se)
• In this episode, Tom Vulliamy and Hemanth Tummala discuss their work, which identifies biallelic mutations in the gene encoding poly(A)-specific ribonuclease ( PARN ) in three families with severe dyskeratosis congenita. (jci.org)
• Moreover, mutations in telomerase genes have been associated with a multitude of diseases including aplastic anaemia, dyskeratosis congenita, and idiopathic pulmonary fibrosis. (asu.edu)

TERC10

• all genes associated with this syndrome (ie, DKC1 , TERT, TERC, NOP10 ) encode proteins in the telomerase complex responsible for maintaining telomeres at the ends of chromosomes regarding shortening length, protection, and replication. (medscape.com)
• In the autosomal dominant form, mutations in the RNA component of telomerase ( TERC ) or telomerase reverse transcriptase ( TERT ) are responsible for disease phenotype. (medscape.com)
• [ 21 ] Mutations in either HuR or TERC can weaken the HuR- TERC binding and reduce TERC methylation, resulting in decreased telomerase activity. (medscape.com)
• Loss of function mutations in TERT , the telomerase reverse transcriptase gene, and TR (also known as TERC ), the telomerase RNA, underlie up to 20% and 3% of familial and sporadic pulmonary fibrosis cases, respectively [ 8 ], [ 9 ]. (ersjournals.com)
• Mutations in TERC, the gene for the RNA component of telomerase, cause short telomeres in congenital aplastic anemia and in some cases of apparently acquired hematopoietic failure. (nih.gov)
• TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements. (cdc.gov)
• Analysis of 270 families in the DKC registry found that mutations in dyskerin ( DKC1 ), TERT , and TERC only account for 64% of patients, with an additional 1% due to NOP10 , suggesting that other genes associated with this syndrome are, as yet, unidentified. (medscape.com)
• Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations. (medscape.com)
• Individuals with biallelic PARN mutations and PARN -depleted cells exhibited reduced RNA levels for several key genes that are associated with telomere biology, specifically TERC , DKC1 , RTEL1 , and TERF1 . (jci.org)
• Telomerase is a complex of a reverse transcriptase protein encoded by the TERT (telomerase reverse transcriptase) gene and a template RNA TERC (telomerase RNA component). (nature.com)

TERT4

• Five heterozygous, nonsynonymous mutations (which cause an amino acid change in the corresponding protein) were identified in TERT, the gene for the telomerase reverse transcriptase catalytic enzyme, among seven unrelated patients. (nih.gov)
• The results of coexpression of wild-type TERT and TERT with aplastic anemia-associated mutations in a telomerase-deficient cell line suggested that haploinsufficiency was the mechanism of telomere shortening due to TERT mutations. (nih.gov)
• Heterozygous mutations in the TERT gene impair telomerase activity by haploinsufficiency and may be risk factors for marrow failure. (nih.gov)
• Germline mutations in DKC1 (XLR), TINF2 (AD), or TERT (AR) happen to be shown to result in HH. (emlinhibitor.com)

Dyskerin4

• In the X-linked recessive form, the gene defect lies in the DKC1 gene (located at Xq28), which encodes for the protein dyskerin. (medscape.com)
• The protein encoded by DKC1, called dyskerin, is a pseudouridine synthase belonging to a highly evolutively conserved family. (unina.it)
• Mutations in the gene encoding dyskerin, DKC1, result in increased tumour susceptibility. (budapestfringe.hu)
• A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia. (telomerescience.com)

TINF24

• Another gene implicated in DKC, TINF2 , encodes a key component of the protein shelterin, which plays a role in telomere homeostasis. (medscape.com)
• [ 13 ] Mutations in TINF2 could lead to DKC or Revesz syndrome, a rare variant of DKC. (medscape.com)
• [ 6 ] Both an autosomal dominant inheritance pattern and de novo occurrence have been associated with TINF2 mutations. (medscape.com)
• Polymerase chain reaction-based sequencing of NOP10 , TINF2 , NHP2 , and DKC1 revealed that both affected siblings shared a novel A to G 1213 transition in DKC1 near the hTR binding domain that is predicted to encode a Thr405Ala amino acid substitution. (telomerescience.com)

NOP101

• Defects in the NOP10 gene were found in association with autosomal recessive DKC. (medscape.com)

RTEL17

• Homozygous autosomal recessive mutations in RTEL1 lead to similar phenotypes that parallel with Hoyeraal-Hreidarsson (HH) syndrome, a severe variant of DKC characterized by cerebellar hypoplasia, bone marrow failure, intrauterine growth restriction and immunodeficiency. (medscape.com)
• Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. (cdc.gov)
• Homozygous autosomal recessive mutations in RTEL1 lead to similar phenotypes that parallel with Hoyeraal-Hreidarsson (HH) syndrome. (medscape.com)
• In the presence of functional DNA replication, RTEL1 mutations produce a large amount of extrachromosomal T-circles. (medscape.com)
• A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome. (medscape.com)
• By studying families impacted by DC for whom a causative mutation has not however been identified, we've got found a homozygous germline mutation in RTEL1, a telomere upkeep gene that, if mutated, can lead to HH. (emlinhibitor.com)
• The ACAT1 MedChemExpress mutations lead to the inability in the RTEL1 protein to function effectively at the telomere, and underscore its crucial role in telomere biology. (emlinhibitor.com)

Homozygous1

• Expansion of clonotype-restricted HLA-identical maternal CD4+ T cells in a patient with severe combined immunodeficiency and a homozygous mutation in the Artemis gene. (lu.se)

Germline1

• Here, we report cancer outcomes in individuals with germline mutations in telomerase and other telomere-maintenance genes. (johnshopkins.edu)

Telomeres3

• Mutations in telomerase cause its loss of function and mediate disease through abnormally shortened telomeres [ 11 ]. (ersjournals.com)
• Family members carrying the mutations also had short telomeres and reduced telomerase activity but no evident hematologic abnormality. (nih.gov)
• These mutations inhibit the deadenylation activity of PARN, resulting in the downregulation of 4 genes involved in telomere maintenance and shortened telomeres. (jci.org)

Heterozygous2

• A heterozygous mutation was found on the conserved telomere maintenance component 1 gene ( CTC1 ). (medscape.com)
• Heterozygous mutations have emerged as a major cause of different intellectual disability syndromes. (centogene.com)

Hoyeraal-Hreidarsson2

• Mutations in DKC1 are associated to Hoyeraal-Hreidarsson syndrome. (wikipedia.org)
• A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome. (lu.se)

PARN3

• Here, using whole exome sequencing (WES), we have identified biallelic mutations in the gene encoding poly(A)-specific ribonuclease (PARN) in 3 families with individuals exhibiting severe DC. (jci.org)
• PARN is an extensively characterized exonuclease with deadenylation activity that controls mRNA stability in part and therefore regulates expression of a large number of genes. (jci.org)
• Collectively, these results identify a role for PARN in telomere maintenance and demonstrate that it is a disease-causing gene in a subset of patients with severe DC. (jci.org)

Pulmonary1

• Familial pulmonary fibrosis prior genetic testing genes Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: SFTPB, SFTPC in childhood onset cases Closing statement These requirements will be kept under continual review during the main programme and may be subject to change. (genomicsengland.co.uk)

Aplastic anemia2

• We investigated whether mutations in genes for other components of telomerase also occur in aplastic anemia. (nih.gov)
• NOLA1 gene mutations in acquired aplastic anemia. (cdc.gov)

Severe2

• This study reports the first missense pathogenic variant in the KAT6A gene causing severe developmental delay, intellectual disability and microcephaly. (centogene.com)
• A severe form of human combined immunodeficiency due to mutations in DNA ligase IV. (ac.ir)

Protein encoded2

• The protein encoded by this gene and the three NOLA proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. (wikipedia.org)
• The protein encoded by this gene is related to the Saccharomyces cerevisiae Cbf5p and Drosophila melanogaster Nop60B proteins. (wikipedia.org)

Missense2

• This report thus expands the spectrum of disease-causing variants in the KAT6A gene to also include missense variants in this gene. (centogene.com)
• We here report the first inherited variant in KAT6A and suggest missense variants in KAT6A to be associated with an inheritable, milder clinical presentation compared to previously reported de novo, truncating mutations in this gene. (centogene.com)

Syndrome5

• Mutations in ribosomal proteins such as S19 have also been associated with a human syndrome that is characterized by increased tumour susceptibility. (budapestfringe.hu)
• An intronic mutation in DKC1 in an infant with H yeraal-Hreidarsson syndrome. (lu.se)
• Hyper IgE Syndrome (HIES): STAT3 (Full Gene Sequencing). (mendelian.co)
• Hyper IgE Syndrome (HIES): STAT3 (known mutation). (mendelian.co)
• 2006). „Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. (wikipedia.org)

Autosomal dominant1

• 3]. Based on the impacted gene, DC is often inherited in Xlinked recessive (XLR), autosomal dominant (AD), or autosomal recessive (AR) patterns. (emlinhibitor.com)

Exome1

• Any cystic lung disease Prior genetic testing guidance - Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. (genomicsengland.co.uk)

Abnormalities3

• Characterisation of breakpoints in patients with apparently balanced constitutional chromosome rearrangements and phenotypic abnormalities has proved an invaluable strategy for identifying disease causing genes, especially those on the X chromosome. (bmj.com)
• 3- 6 Phenotypic abnormalities seen in cases with apparently balanced chromosome rearrangements have usually been explained by the disruption of a gene at the breakpoint causing the loss of gene function. (bmj.com)
• 12- 17 However, there is still further allelic heterogeneity within this region as there are additional XLMR families published that map to Xq28 with a significant lod score but do not have abnormalities in any of these genes. (bmj.com)

Sporadic1

• DKC1 gene mutations in human sporadic cancer. (cdc.gov)

Bone1

• Telomerase mutations are the most common identifiable genetic cause of IPF, and at times, the telomere defect manifests in extrapulmonary disease such as bone marrow failure. (ersjournals.com)

SnoRNPs1

• This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. (wikipedia.org)

Drosophila2

• Since Drosophila midgut has recently emerged as an ideal model for the study of the molecular mechanisms underlying somatic stem cell maintenance, it provides an useful system to evaluate the effects caused by loss of function of genes involved in this process. (unina.it)
• I thus used the GAL4/UAS system to silence in vivo Nop60b/mfl, the Drosophila ortholog of DKC1, and investigate in detail the effects triggered by gene silencing on the formation of larval Adult Midgut Precursor (AMPs) cells. (unina.it)

Variant1

• This DKC1 variant represents the third telomere-related gene identified as a genetic cause of FIP. (telomerescience.com)

Sequencing2

• We performed targeted sequencing of other telomere-related genes to identify the genetic basis of FIP in this kindred. (telomerescience.com)
• Massive parallel sequencing has been an effective means of diagnosing patients, especially those who carry a de novo mutation. (centogene.com)

Functional1

• Results: The diversity of transcriptomes is described by personalized SOM-portraits, which specify the samples in terms of modules of co-expressed genes of different functional context. (health-atlas.de)

Xq284

• This showed that the four known genes involved in non-syndromic mental retardation in Xq28, FMR2 , SLC6A8 , MECP2 , and GDI1 , were not involved in the translocation. (bmj.com)
• Xq28 appears to be an unstable region of the human genome and genomic rearrangements are recognised as major causes of two single gene defects, haemophilia A and incontinentia pigmenti, which map within Xq28. (bmj.com)
• Four genes within Xq28 have previously been identified that when mutated result in non-syndromic mental retardation. (bmj.com)
• 18- 21 Xq28 is a highly gene rich region of the human X chromosome and we focused on the X chromosome breakpoint as the identification of a disrupted gene here would be a rapid way to identify a further candidate gene for X linked mental retardation within Xq28. (bmj.com)

Novo1

• In severely affected patients, reproductive fitness is impaired and mutations have usually arisen de novo. (centogene.com)

Clinical1

• The diseases page is divided into the telomerase components and contains a listing of mutations and their associated clinical phenotype seen in patients. (asu.edu)

Expression4

• hTR levels were decreased out of proportion to DKC1 expression in the T405A DKC1 proband, suggesting this mutation destabilizes hTR and impairs telomerase function. (telomerescience.com)
• However, other mechanisms of disease causation have also been described where (1) a breakpoint disrupts or alters gene expression via a position effect 7 or (2) a cryptic deletion or duplication is identified at the translocation breakpoint. (bmj.com)
• It is based on the introduction of nucleic acid with the help of a vector, into a diseased cell or tissue, to correct the gene expression and thus prevent, halt, or reverse a pathological process. (e-ijd.org)
• An ideal vector should have the ability for sustained gene expression, acceptable coding capacity, high transduction efficiency, and devoid of mutagenicity. (e-ijd.org)

Function3

• Identified mutations were transfected into telomerase-deficient cell lines to examine their effects and their mechanism of action on telomerase function. (nih.gov)
• Animal models that have lost DKC1 function show a marked increase in tumour incidence associated with a decrease in rRNA processing. (budapestfringe.hu)
• The underlying genetic mutations are known in ~40% of cases and are found within genes associated with telomere maintenance and function. (jci.org)

Replication1

• In addition to the mutations that directly effect telomere length, recent studies also indicate that a DKC diagnosis should not be based solely on the length of the telomere, but also the fact that there are defects in telomere replication and protection. (medscape.com)

Patients4

• In three of these patients, the mutation was also detected in buccal mucosa cells. (nih.gov)
• Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia. (cdc.gov)
• Age over 50 years was the biggest risk factor, and MDS/AML usually manifested with marrow hypoplasia and monosomy 7, but the somatic mutation landscape was indistinct from unselected patients. (johnshopkins.edu)
• We tested whether adult short telomere patients without MDS/AML also had evidence of clonal hematopoiesis of indeterminate potential-related mutations and found that 30% were affected. (johnshopkins.edu)