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Shwachman- Diamond syndrome

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https://www.readbyqxmd.com/read/29092827/somatic-mutations-and-clonal-hematopoiesis-in-congenital-neutropenia
#1
Jun Xia, Christopher A Miller, Jack Baty, Amrita Ramesh, Matthew R M Jotte, Robert S Fulton, Tiphanie P Vogel, Megan A Cooper, Kelly J Walkovich, Vahagn Makaryan, Audrey A Bolyard, Mary C Dinauer, David B Wilson, Adrianna Vlachos, Kasiani C Myers, Robert J Rothbaum, Alison A Bertuch, David C Dale, Akiko Shimamura, Laurence A Boxer, Daniel C Link
Severe congenital neutropenia (SCN) and Shwachman-Diamond syndrome (SDS) are congenital neutropenia syndromes with a high rate of leukemic transformation. Hematopoietic stressors may contribute to leukemic transformation by increasing the mutation rate in hematopoietic stem/progenitor cells (HSPCs) and/or by promoting clonal hematopoiesis. We sequenced the exome of individual hematopoietic colonies derived from 13 patients with congenital neutropenia to measure total mutation burden and performed error-corrected sequencing on a panel of 46 genes on 80 patients with congenital neutropenia to assess for clonal hematopoiesis...
November 1, 2017: Blood
https://www.readbyqxmd.com/read/29051281/cancer-in-the-national-cancer-institute-inherited-bone-marrow-failure-syndrome-cohort-after-15-years-of-follow-up
#2
Blanche P Alter, Neelam Giri, Sharon A Savage, Philip S Rosenberg
The National Cancer Institute Inherited Bone Marrow Failure Syndromes Cohort enrolls patients with the four major syndromes: Fanconi anemia, dyskeratosis congenita, Diamond Blackfan anemia, and Shwachman Diamond syndrome, and follows them with a common comprehensive protocol. The current analysis includes more than double the numbers of patients and person-years since our first report in 2010. Patients with Fanconi anemia and dyskeratosis congenita developed head and neck and anogenital squamous cell carcinomas at rates that are hundreds-fold greater than the general population...
October 19, 2017: Haematologica
https://www.readbyqxmd.com/read/28972538/mutations-in-signal-recognition-particle-srp54-cause-syndromic-neutropenia-with-shwachman-diamond-like-features
#3
Raphael Carapito, Martina Konantz, Catherine Paillard, Zhichao Miao, Angélique Pichot, Magalie S Leduc, Yaping Yang, Katie L Bergstrom, Donald H Mahoney, Deborah L Shardy, Ghada Alsaleh, Lydie Naegely, Aline Kolmer, Nicodème Paul, Antoine Hanauer, Véronique Rolli, Joëlle S Müller, Elisa Alghisi, Loïc Sauteur, Cécile Macquin, Aurore Morlon, Consuelo Sebastia Sancho, Patrizia Amati-Bonneau, Vincent Procaccio, Anne-Laure Mosca-Boidron, Nathalie Marle, Naël Osmani, Olivier Lefebvre, Jacky G Goetz, Sule Unal, Nurten A Akarsu, Mirjana Radosavljevic, Marie-Pierre Chenard, Fanny Rialland, Audrey Grain, Marie-Christine Béné, Marion Eveillard, Marie Vincent, Julien Guy, Laurence Faivre, Christel Thauvin-Robinet, Julien Thevenon, Kasiani Myers, Mark D Fleming, Akiko Shimamura, Elodie Bottollier-Lemallaz, Eric Westhof, Claudia Lengerke, Bertrand Isidor, Seiamak Bahram
Shwachman-Diamond syndrome (SDS) (OMIM #260400) is a rare inherited bone marrow failure syndrome (IBMFS) that is primarily characterized by neutropenia and exocrine pancreatic insufficiency. Seventy-five to ninety percent of patients have compound heterozygous loss-of-function mutations in the Shwachman-Bodian-Diamond syndrome (sbds) gene. Using trio whole-exome sequencing (WES) in an sbds-negative SDS family and candidate gene sequencing in additional SBDS-negative SDS cases or molecularly undiagnosed IBMFS cases, we identified 3 independent patients, each of whom carried a de novo missense variant in srp54 (encoding signal recognition particle 54 kDa)...
October 3, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28945313/severe-infantile-isolated-exocrine-pancreatic-insufficiency-caused-by-the-complete-functional-loss-of-the-spink1-gene
#4
Théa Venet, Emmanuelle Masson, Cécile Talbotec, Kareen Billiemaz, Renaud Touraine, Claire Gay, Sylvie Destombe, David N Cooper, Hugues Patural, Jian-Min Chen, Claude Férec
Exocrine pancreatic insufficiency (EPI) is rare in children, with most if not all cases occurring as part of syndromic conditions such as cystic fibrosis and Shwachman-Diamond syndrome. Here we report two cases, both presenting with severe EPI around 5 months of age. Characterized by diffuse pancreatic lipomatosis, they otherwise exhibited no remarkable deficiencies in other organs. Novel non-identical homozygous variants (a deletion removing the entire SPINK1 gene and an insertion of a full-length inverted Alu element into the 3'-untranslated region of the SPINK1 gene) resulting in the complete functional loss of the SPINK1 gene (encoding pancreatic secretory trypsin inhibitor) were identified in each patient...
September 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/28942353/molecular-basis-of-the-human-ribosomopathy-shwachman-diamond-syndrome
#5
REVIEW
Alan J Warren
Mutations that target the ubiquitous process of ribosome assembly paradoxically cause diverse tissue-specific disorders (ribosomopathies) that are often associated with an increased risk of cancer. Ribosomes are the essential macromolecular machines that read the genetic code in all cells in all kingdoms of life. Following pre-assembly in the nucleus, precursors of the large 60S and small 40S ribosomal subunits are exported to the cytoplasm where the final steps in maturation are completed. Here, I review the recent insights into the conserved mechanisms of ribosome assembly that have come from functional characterisation of the genes mutated in human ribosomopathies...
September 6, 2017: Advances in Biological Regulation
https://www.readbyqxmd.com/read/28801981/pregnancy-outcomes-in-mothers-of-offspring-with-inherited-bone-marrow-failure-syndromes
#6
Neelam Giri, Helen D Reed, Pamela Stratton, Sharon A Savage, Blanche P Alter
BACKGROUND: Children with inherited bone marrow failure syndromes (IBMFSs) may be symptomatic in utero, resulting in maternal and fetal problems during the pregnancy. Subsequent pregnancies by their mothers should be considered "high risk". METHODS: We retrospectively analyzed outcomes of 575 pregnancies in 165 unaffected mothers of offspring with Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SDS) for events noted during pregnancy, labor, and delivery...
August 12, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28685844/genetic-characterization-of-gsd-i-in-serbian-population-revealed-unexpectedly-high-incidence-of-gsd-ib-and-three-novel-slc37a4-variants
#7
Anita Skakic, Maja Djordjevic, Adrijan Sarajlija, Kristel Klaassen, Natasa Tosic, Bozica Kecman, Milena Ugrin, Vesna Spasovski, Sonja Pavlovic, Maja Stojiljkovic
Glycogen storage disease (GSD) type I is inborn metabolic disease characterized by accumulation of glycogen in multiple organs. We analyzed 38 patients with clinical suspicion of GSD I using Sanger and next-generation sequencing (NGS). We identified 28 GSD Ib and five Ia patients. In five patients, GSD III, VI, IX, cholesteryl-ester storage disease and Shwachman-Diamond syndrome diagnoses were set using NGS. Incidences for GSD Ia and GSD Ib were estimated at 1:172746 and 1:60461 live-births respectively. Two variants were identified in G6PC gene: c...
July 7, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28684451/dysplastic-neutrophils-in-the-bone-marrow-of-a-shwachman-diamond-syndrome-patient
#8
Jean-François Lesesve, Julien Broséus
No abstract text is available yet for this article.
July 6, 2017: Blood
https://www.readbyqxmd.com/read/28637614/classical-inherited-bone-marrow-failure-syndromes-with-high-risk-for-myelodysplastic-syndrome-and-acute-myelogenous-leukemia
#9
REVIEW
Sharon A Savage, Carlo Dufour
The inherited marrow failure syndromes (IBMFS) are a heterogeneous group of diseases characterized by failure in the production of one or more blood lineage. The clinical manifestations of the IBMFS vary according to the type and number of blood cell lines involved, including different combinations of anemia, leukopenia, and thrombocytopenia. In some IBMFS, systemic non-hematologic manifestations, including congenital malformations, mucocutaneous abnormalities, developmental delay, and other medical complications, may be present...
April 2017: Seminars in Hematology
https://www.readbyqxmd.com/read/28602958/allogeneic-hematopoietic-cell-transplantation-using-treosulfan-based-conditioning-for-treatment-of-marrow-failure-disorders
#10
Lauri M Burroughs, Akiko Shimamura, Julie-An Talano, Jennifer A Domm, Kelsey K Baker, Colleen Delaney, Haydar Frangoul, David A Margolis, K Scott Baker, Eneida R Nemecek, Amy E Geddis, Brenda M Sandmaier, H Joachim Deeg, Rainer Storb, Ann E Woolfrey
Hematopoietic cell transplantation (HCT) is effective in the treatment of inherited marrow failure disorders and other nonmalignant diseases. Conventional myeloablative conditioning regimens have been associated with high transplant-related mortality, particularly in patients with comorbid conditions. Here we report on 14 patients with marrow failure disorders (Shwachman-Diamond syndrome, n = 3; Diamond Blackfan anemia, n = 4; GATA2 deficiency, n = 2; paroxysmal nocturnal hemoglobinuria, n = 4; and an undefined marrow failure disorder, n = 1) who underwent HCT on a prospective, phase II, multicenter clinical trial...
October 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28588803/syndrome-of-progressive-bone-marrow-failure-and-pancreatic-insufficiency-remains-cryptic-despite-whole-exome-sequencing-variant-of-shwachman-diamond-syndrome-or-new-condition
#11
Matthew C Fadus, Eric T Rush, Christina K Lettieri
This case underscores the difficulty in diagnosis of bone marrow failure disorders, as the presentation of disease can be inconsistent, complicated by complex and ever-expanding genetic etiologies. A patient who presents with bone marrow failure and pancreatic insufficiency raises the question of Shwachman-Diamond syndrome (SDS) or a new condition which resembles SDS.
June 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28509441/the-greek-registry-of-shwachman-diamond-syndrome-molecular-and-clinical-data
#12
Polyxeni Delaporta, Christalena Sofocleous, Marina Economou, Alexandros Makis, Stavroula Kostaridou, Antonis Kattamis
This study presents the clinical phenotype and molecular analysis findings from 11 patients recorded in the Greek Shwachman-Diamond syndrome (SDS) Registry. The most severely affected patient in our registry was diagnosed at birth and is the first patient reported to require bone marrow transplantation so early in life. Severe psoriasis, a feature not previously reported in SDS, was observed in one patient. Mutations in the Shwachman-Bodian-Diamond syndrome gene (SBDS) were found in all patients. Cytogenetic analyses revealed clonal abnormalities, one novel, in two patients...
November 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28502446/pancreatic-disorders
#13
REVIEW
Aliye Uc, Douglas S Fishman
Once considered uncommon, pancreatic diseases are increasingly recognized in the pediatric age group. Acute pancreatitis, acute recurrent pancreatitis, and chronic pancreatitis occur in children with an incidence approaching that of adults. Risk factors are broad, prompting the need for a completely different diagnostic and therapeutic approach in children. Although cystic fibrosis remains the most common cause of exocrine pancreatic insufficiency, other causes such as chronic pancreatitis may be as common as Shwachman Diamond syndrome...
June 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/28486441/bone-mineral-density-in-patients-with-inherited-bone-marrow-failure-syndromes
#14
Roopa Kanakatti Shankar, Neelam Giri, Maya B Lodish, Ninet Sinaii, James C Reynolds, Sharon A Savage, Constantine A Stratakis, Blanche P Alter
BackgroundPatients with inherited bone marrow failure syndromes (IBMFS) may have several risk factors for low bone mineral density (BMD). We aimed to evaluate the prevalence of low BMD in IBMFS and determine the associated risk factors.MethodsPatients with IBMFS with at least one dual-energy X-ray absorptiometry (DXA) scan were evaluated. Diagnosis of each IBMFS, Fanconi anemia (FA), dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome was confirmed by syndrome-specific tests. Data were gathered on age, height, and clinical history...
September 2017: Pediatric Research
https://www.readbyqxmd.com/read/28346418/first-experience-of-hematopoietic-stem-cell-transplantation-treatment-of-shwachman-diamond-syndrome-using-unaffected-hla-matched-sibling-donor-produced-through-preimplantation-hla-typing
#15
A A Isaev, R V Deev, A Kuliev, I L Plaxa, N V Stancheva, A S Borovkova, I V Potapov, E A Pomerantseva, A G Chogovadze, K Y Boyarsky, A E Semenenko, A V Mikhailov, K G Shevchenko, A V Prikhodko, S Rechitsky, O V Paina, I M Barchatov, L S Zubarovskaya, O Verlinsky, I Y Bozo, B V Afanasyev
The only proven cure for Shwachman-Diamond syndrome (SDS) bone marrow failure is allogeneic hematopoietic stem cell transplantation (HSCT). However HSCT with donors other than HLA-identical siblings is associated with high mortality and unfavorable prognosis. This paper presents the first experience of HSCT treatment of SDS using an unaffected HLA-identical sibling produced through preimplantation genetic diagnosis (PGD). The patient was a 6-year-old blood transfusion-dependent SDS baby girl with secondary myelodysplastic syndrome, for whom no HLA-identical donor was available...
September 2017: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/28331068/mutations-in-efl1-an-sbds-partner-are-associated-with-infantile-pancytopenia-exocrine-pancreatic-insufficiency-and-skeletal-anomalies-in-a-shwachman-diamond-like-syndrome
#16
Polina Stepensky, Montserrat Chacón-Flores, Katherine H Kim, Omar Abuzaitoun, Arnulfo Bautista-Santos, Natalia Simanovsky, Dritan Siliqi, Davide Altamura, Alfonso Méndez-Godoy, Abril Gijsbers, Adeeb Naser Eddin, Talia Dor, Joel Charrow, Nuria Sánchez-Puig, Orly Elpeleg
BACKGROUND: For the final step of the maturation of the ribosome, the nascent 40S and 60S subunits are exported from the nucleus to the cell cytoplasm. To prevent premature association of these ribosomal subunits, eukaryotic initiation factor 6 (eIF6) binds the 60S subunit within the nucleus. Its release in the cytoplasm requires the interaction of EFL1 and SDBS proteins. In Shwachman-Diamond syndrome (SDS), a defective SDBS protein prevents eIF6 eviction, inhibiting its recycle to the nucleus and subsequent formation of the active 80S ribosome...
March 22, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28211564/the-genomics-of-inherited-bone-marrow-failure-from-mechanism-to-the-clinic
#17
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...
May 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28177873/prognostic-mutations-in-myelodysplastic-syndrome-after-stem-cell-transplantation
#18
R Coleman Lindsley, Wael Saber, Brenton G Mar, Robert Redd, Tao Wang, Michael D Haagenson, Peter V Grauman, Zhen-Huan Hu, Stephen R Spellman, Stephanie J Lee, Michael R Verneris, Katharine Hsu, Katharina Fleischhauer, Corey Cutler, Joseph H Antin, Donna Neuberg, Benjamin L Ebert
BACKGROUND: Genetic mutations drive the pathogenesis of the myelodysplastic syndrome (MDS) and are closely associated with clinical phenotype. Therefore, genetic mutations may predict clinical outcomes after allogeneic hematopoietic stem-cell transplantation. METHODS: We performed targeted mutational analysis on samples obtained before transplantation from 1514 patients with MDS who were enrolled in the Center for International Blood and Marrow Transplant Research Repository between 2005 and 2014...
February 9, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28130858/novel-recurrent-chromosome-anomalies-in-shwachman-diamond-syndrome
#19
Roberto Valli, Elena De Paoli, Lucia Nacci, Annalisa Frattini, Francesco Pasquali, Emanuela Maserati
BACKGROUND: Two chromosome anomalies are frequent in the bone marrow (BM) of patients with Shwachman-Diamond syndrome (SDS): an isochromosome of the long arm of chromosome 7, i(7)(q10), and an interstitial deletion of the long arm of chromosome 20, del(20)(q). These anomalies are associated with a lower risk of developing myelodysplasia (MDS) and/or acute myeloid leukemia. The chromosome anomalies may be due to an SDS-specific karyotype instability, reflected also by anomalies that are not clonal, but found in single cells in the BM or in peripheral blood (PB)...
August 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28062395/biallelic-mutations-in-dnajc21-cause-shwachman-diamond-syndrome
#20
LETTER
Santhosh Dhanraj, Anna Matveev, Hongbing Li, Supanun Lauhasurayotin, Lawrence Jardine, Michaela Cada, Bozana Zlateska, Chetankumar S Tailor, Joseph Zhou, Roberto Mendoza-Londono, Ajoy Vincent, Peter R Durie, Stephen W Scherer, Johanna M Rommens, Elise Heon, Yigal Dror
No abstract text is available yet for this article.
March 16, 2017: Blood
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