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Dyskeratosis Congenita

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https://www.readbyqxmd.com/read/28211564/the-genomics-of-inherited-bone-marrow-failure-from-mechanism-to-the-clinic
#1
REVIEW
Talia Wegman-Ostrosky, Sharon A Savage
The inherited bone marrow failure syndromes (IBMFS) typically present with significant cytopenias in at least one haematopoietic cell lineage that may progress to pancytopenia, and are associated with increased risk of cancer. Although the clinical features of the IBMFS are often diagnostic, variable disease penetrance and expressivity may result in diagnostic dilemmas. The discovery of the genetic aetiology of the IBMFS has been greatly facilitated by next-generation sequencing methods. This has advanced understanding of the underlying biology of the IBMFS and been essential in improving clinical management and genetic counselling for affected patients...
February 17, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28154186/structural-analysis-reveals-the-deleterious-effects-of-telomerase-mutations-in-telomerase-associated-bone-marrow-failure-syndromes
#2
Hunter Hoffman, Cory Rice, Emmanuel Skordalakes
Naturally occurring mutations in the ribonucleoprotein reverse transcriptase, telomerase, are associated with the bone marrow failure syndromes dyskeratosis congenita (DKC), aplastic anemia (AA), and idiopathic pulmonary fibrosis (IPF). However, the mechanism by which these mutations impact telomerase function remains unknown. Here we present the structure of the human telomerase c-terminal extension (CTE or thumb domain) determined by the method of single-wavelength anomalous diffraction (SAD) to 2.31 A resolution...
February 1, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28126377/defects-in-lymphocyte-telomere-homeostasis-contribute-to-cellular-immune-phenotype-in-cartilage-hair-hypoplasia
#3
Geraldine Aubert, Kevin A Strauss, Peter M Lansdorp, Nicholas L Rider
BACKGROUND: Mutations in the lncRNA RNase component of the Mitochondrial RNA Processing endoribonuclease (RMRP) give rise to the autosomal recessive condition cartilage-hair hypoplasia (CHH). The CHH disease phenotype has some overlap with dyskeratosis congenita, a well known "telomere disorder". RMRP binds the telomerase reverse transcriptase protein TERT in some cell lines, raising the possibility that RMRP may play a role in telomere biology. OBJECTIVE: We sought to determine if a telomere phenotype is present in immune cells from individuals with CHH and explore mechanisms underlying these observations...
January 23, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28120765/-dangerous-liaisons-p53-dyskeratosis-congenita-and-fanconi-anemia
#4
Eléonore Toufektchan, Sara Jaber, Franck Toledo
No abstract text is available yet for this article.
January 2017: Médecine Sciences: M/S
https://www.readbyqxmd.com/read/28115275/current-knowledge-and-priorities-for-future-research-in-late-effects-after-hematopoietic-cell-transplantation-hct-for-inherited-bone-marrow-failure-syndromes-ibmfs-consensus-statement-from-the-second-pediatric-blood-and-marrow-transplant-consortium-international
#5
REVIEW
Andrew C Dietz, Parinda A Mehta, Adrianna Vlachos, Sharon A Savage, Dorine Bresters, Jakub Tolar, Farid Boulad, Jean Hugues Dalle, Carmem Bonfim, Josu de la Fuente, Christine N Duncan, K Scott Baker, Michael A Pulsipher, Jeffrey M Lipton, John E Wagner, Blanche P Alter
Fanconi anemia (FA), dyskeratosis congenita (DC), and Diamond Blackfan anemia (DBA) are three of the most common inherited bone marrow failure syndromes (IBMFS), in which the hematologic manifestations can be cured with hematopoietic cell transplantation (HCT). Later in life these patients face a variety of medical conditions which may be a manifestation of underlying disease, may be due to their pre-HCT therapy, may be due to their HCT, or may be a combination of all these elements. Very limited long-term follow-up data exist in these populations, with FA the only IBMFS that has specific published data...
January 20, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28115201/life-and-death-of-yeast-telomerase-rna
#6
REVIEW
Yulia Vasianovich, Raymund J Wellinger
Telomerase reverse transcriptase elongates telomeres to overcome their natural attrition and allow unlimited cellular proliferation, a characteristic shared by stem cells as well as the majority of malignant cancerous cells. The telomerase holoenzyme comprises a core RNA molecule, a catalytic protein subunit and other accessory proteins. Malfunction of certain telomerase components can cause serious genetic disorders including dyskeratosis congenita and aplastic anemia. A hierarchy of tightly regulated steps constitute the process of telomerase biogenesis, which if interrupted or misregulated, can impede production of a functional enzyme and severely affect telomere maintenance...
January 20, 2017: Journal of Molecular Biology
https://www.readbyqxmd.com/read/28095086/retinal-findings-and-a-novel-tinf2-mutation-in-revesz-syndrome-clinical-and-molecular-correlations-with-pediatric-retinal-vasculopathies
#7
Mrinali P Gupta, Katherine E Talcott, David Y Kim, Suneet Agarwal, Shizuo Mukai
BACKGROUND: Revesz syndrome is a telomere disorder in the dyskeratosis congenita (DKC) spectrum characterized by exudative retinopathy, bone marrow failure, neuroradiographic abnormalities, and integumentary findings. MATERIALS/METHODS: We report the ophthalmologic findings, documented by examinations under anesthesia with clinical photography and fluorescein angiography, as well as the systemic manifestations and genetic and molecular testing, in identical twins with Revesz syndrome, and compare and contrast these features to those of other pediatric retinal vasculopathies...
January 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28092351/pulmonary-complications-post-hematopoietic-stem-cell-transplant-in-dyskeratosis-congenita-analysis-of-oxidative-stress-in-lung-fibroblasts
#8
C Sorge, L Pereboeva, E Westin, W T Harris, D R Kelly, F Goldman
No abstract text is available yet for this article.
January 16, 2017: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/27904106/fatal-hemorrhagic-gastrointestinal-angioectasia-after-bone-marrow-transplantation-for-dyskeratosis-congenita
#9
Jin Imai, Takayoshi Suzuki, Marie Yoshikawa, Makiko Dekiden, Hirohiko Nakae, Fumio Nakahara, Shingo Tsuda, Hajime Mizukami, Jun Koike, Muneki Igarashi, Hiromasa Yabe, Tetsuya Mine
Dyskeratosis congenita (DC) is a rare inherited disease in which the telomere complex cannot be maintained. Shortened telomeres can cause a number of clinical conditions. We herein report a case of unrelated bone marrow transplantation due to aplastic anemia associated with DC. The patient died of uncontrollable refractory intestinal bleeding. Three cases of DC with life-threatening hemorrhaging after transplantation have been reported; however, the bleeding origin could not be determined. Our case is the only patient in which a gastrointestinal bleeding point, jejunal multiple angioectasia, was determined...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27904002/diffuse-mesangial-sclerosis-in-a-child-with-dyskeratosis-congenita-leading-to-end-stage-renal-disease
#10
Abidi Kamel, Taha Sayari, Manel Jellouli, Yousra Hammi, Rim Ghoucha Louzir, Tahar Gargah
Dyskeratosis congenita (DC) is a very rare inherited disorder. It is caused by dysfunction of telomere maintenance. It involves RNA telomerase components relevant to various mutations leading to a classic triad of physical findings consisting of nail dystrophy of the hands and feet, mucosal leukoplakia, and reticular pigmentation of the skin, most commonly on the head, neck, and trunk. Bone marrow failure along with pulmonary complications and malignancies are all common causes of premature death in patients with DC as well as other abnormalities...
November 2016: Iranian Journal of Kidney Diseases
https://www.readbyqxmd.com/read/27807141/structural-and-functional-consequences-of-a-disease-mutation-in-the-telomere-protein-tpp1
#11
Kamlesh Bisht, Eric M Smith, Valerie M Tesmer, Jayakrishnan Nandakumar
Telomerase replicates chromosome ends to facilitate continued cell division. Mutations that compromise telomerase function result in stem cell failure diseases, such as dyskeratosis congenita (DC). One such mutation (K170Δ), residing in the telomerase-recruitment factor TPP1, provides an excellent opportunity to structurally, biochemically, and genetically dissect the mechanism of such diseases. We show through site-directed mutagenesis and X-ray crystallography that this TPP1 disease mutation deforms the conformation of two critical amino acids of the TEL [TPP1's glutamate (E) and leucine-rich (L)] patch, the surface of TPP1 that binds telomerase...
November 15, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27750347/-pan-cytopenia-as-first-manifestation-of-kryptic-telomeropathies-in-adults
#12
Karla Schmitt, Fabian Beier, Jens Panse, Tim H Brümmendorf
Telomere syndromes (syn. Telomeropathies) are inherited disorders hallmarked by accelerated telomere shortening based on a molecular defect within the telomerase/telomere complex. The rare, but well-defined model disorder Dyskeratosis congenita (DKC) characterized by typical skin manifestations and bone marrow failure represents the classical manifestation of telomere syndromes in childhood and adolescence. However, cryptic variants of DKC, clinically manifest through appearance of atypical bone marrow failure, lung fibrosis or liver cirrhosis - especially in adults up to the fifth decade of age - are frequently underdiagnosed...
October 2016: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/27685501/retinal-vascular-tortuosity-and-exudative-retinopathy-in-a-family-with-dyskeratosis-congenita-masquerading-as-familial-exudative-vitreoretinopathy
#13
Aristomenis Thanos, Bozho Todorich, Stephen M Hypes, Yoshihiro Yonekawa, Benjamin Thomas, Sandeep Randhawa, Kimberly A Drenser, Michael T Trese
PURPOSE: To report a novel presentation of dyskeratosis congenita masquerading as familial exudative vitreoretinopathy. METHODS: Observational case series involving single family and literature review. RESULTS: A brother and sister were diagnosed with familial exudative vitreoretinopathy at ages 4 and 2, respectively. Both patients were managed with laser photocoagulation. Eight years after the initial presentation, both siblings developed pancytopenia secondary to bone marrow failure...
January 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/27622320/clonal-hematopoiesis-in-patients-with-dyskeratosis-congenita
#14
Nieves Perdigones, Juan C Perin, Irene Schiano, Peter Nicholas, Jaclyn A Biegel, Philip J Mason, Daria V Babushok, Monica Bessler
Dyskeratosis congenita (DC) is a rare inherited telomeropathy most frequently caused by mutations in a number of genes all thought to be involved in telomere maintenance. The main causes of mortality in DC are bone marrow failure as well as malignancies including leukemias and solid tumors. The clinical picture including the degree of bone marrow failure is highly variable and factors that contribute to this variability are poorly understood. Based on the recent finding of frequent clonal hematopoiesis in related bone marrow failure syndromes, we hypothesized that somatic mutations may also occur in DC and may contribute at least in part to the variability in blood production...
December 2016: American Journal of Hematology
https://www.readbyqxmd.com/read/27612988/marked-overlap-of-four-genetic-syndromes-with-dyskeratosis-congenita-confounds-clinical-diagnosis
#15
Amanda J Walne, Laura Collopy, Shirleny Cardoso, Alicia Ellison, Vincent Plagnol, Canan Albayrak, Davut Albayrak, Sara Sebnem Kilic, Turkan Patıroglu, Haluk Akar, Keith Godfrey, Tina Carter, Makia Marafie, Ajay Vora, Mikael Sundin, Thomas Vulliamy, Hemanth Tummala, Inderjeet Dokal
Dyskeratosis congenita is a highly pleotropic genetic disorder. This heterogeneity can lead to difficulties in making an accurate diagnosis and delays in appropriate management. The aim of this study was to determine the underlying genetic basis in patients presenting with features of dyskeratosis congenita and who were negative for mutations in the classical dyskeratosis congenita genes. By whole exome and targeted sequencing, we identified biallelic variants in genes that are not associated with dyskeratosis congenita in 17 individuals from 12 families...
October 2016: Haematologica
https://www.readbyqxmd.com/read/27607446/allogeneic-hematopoietic-stem-cell-transplantation-for-dyskeratosis-congenita
#16
Shaimaa Elmahadi, Hideki Muramatsu, Seiji Kojima
PURPOSE OF REVIEW: Dyskeratosis congenita is an inherited bone marrow failure syndrome caused by defects in telomere maintenance. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment for bone marrow failure because of dyskeratosis congenita. The present review summarizes the literature with respect to the diagnosis and treatment of patients with dyskeratosis congenita who received HSCT, and discusses the recent progress in the management of dyskeratosis congenita...
November 2016: Current Opinion in Hematology
https://www.readbyqxmd.com/read/27570172/investigation-of-chromosome-x-inactivation-and-clinical-phenotypes-in-female-carriers-of-dkc1-mutations
#17
Jialin Xu, Payal P Khincha, Neelam Giri, Blanche P Alter, Sharon A Savage, Judy M Y Wong
Dyskeratosis congenita (DC) is an inherited bone marrow failure and cancer susceptibility syndrome caused by germline mutations in telomere biology genes. Germline mutations in DKC1, which encodes the protein dyskerin, cause X-linked recessive DC. Because of skewed X-chromosome inactivation, female DKC1 mutation carriers do not typically develop clinical features of DC. This study evaluated female DKC1 mutation carriers with DC-associated phenotypes to elucidate the molecular features of their mutations, in comparison with unaffected carriers and mutation-negative female controls...
December 2016: American Journal of Hematology
https://www.readbyqxmd.com/read/27559501/dyskeratosis-congenita-presenting-with-dysphagia
#18
Kalpana Gupta, Swati Tripathi, Nidheesh Agarwal, Anurag Bareth
Dyskeratosiscongenita (DKC) is a genetically heterogeneous disease of defective telomere maintenance that may demonstrate different patterns of inheritance. It is characterized by thetriad of dystrophy of the nails, leukokeratosis of the oral mucosa, and extensive net-like pigmentation of the skin. We report a case ofDKC who presented with a chief complaint of dysphagia.
July 2016: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/27545506/enhancing-a-wnt-telomere-feedback-loop-restores-intestinal-stem-cell-function-in-a-human-organotypic-model-of-dyskeratosis-congenita
#19
Dong-Hun Woo, Qijun Chen, Ting-Lin B Yang, M Rebecca Glineburg, Carla Hoge, Nicolae A Leu, F Brad Johnson, Christopher J Lengner
Patients with dyskeratosis congenita (DC) suffer from stem cell failure in highly proliferative tissues, including the intestinal epithelium. Few therapeutic options exist for this disorder, and patients are treated primarily with bone marrow transplantation to restore hematopoietic function. Here, we generate isogenic DC patient and disease allele-corrected intestinal tissue using clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9-mediated gene correction in induced pluripotent stem cells and directed differentiation...
September 1, 2016: Cell Stem Cell
https://www.readbyqxmd.com/read/27504423/zinsser-cole-engman-syndrome-a-rare-case-report
#20
Chaitanya Penmatsa, Sharada Reddy Jampanapalli, Sushma Bezawada, Uday Kumar Chowdary Birapu, Vasantha Kumari Radharapu
Zinsser-Cole-Engmann syndrome also called Dyskeratosis Congenita (DKC) is a rare genodermatosis first described by Zinsser in 1906. Mutations in DKC1 gene is responsible for DKC. It is usually inherited as an X-linked recessive trait, resulting in a striking male predilection. It is characterized by a triad of reticular skin pigmentation, nail dystrophy and mucosal leukoplakia. Complications include predisposition to malignancy and bone marrow failure. Here, we report a case of DKC in a 9-year-old boy with classic triad of signs...
June 2016: Journal of Clinical and Diagnostic Research: JCDR
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