scholarly journals Pancreatic cancer in bloom syndrome

2019 ◽  
Vol 7 ◽  
pp. 2050313X1985558
Author(s):  
Itai Tzfoni ◽  
Jennifer Chayo ◽  
Meital Shaked ◽  
Ezra Bernstein ◽  
Roy Dekel ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Genomic Instability ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Bloom Syndrome ◽  
Gastrointestinal Cancers ◽  
Recq Helicase ◽  
First Case ◽  
Physical Features ◽  
Blm Gene

Bloom syndrome is a rare autosomal recessive disorder characterized by distinct physical features, such as short stature, genomic instability, and predisposition to numerous cancers. The BLM gene encodes for the RecQ helicase that plays an important role in genome editing, maintenance, and stability. Mutations in the BLM gene cause genomic instability that exposes the carriers to a variety of cancers, and in particular hematological and gastrointestinal cancers. Herein, we report the first case of pancreatic cancer in a 32-year-old patient with bloom syndrome.

Genomic instability and cancer: lessons from analysis of Bloom's syndrome

2009 ◽  
Vol 37 (3) ◽  
pp. 553-559 ◽  
Author(s):  
Miranda Payne ◽  
Ian D. Hickson
Keyword(s):  
Genomic Instability ◽  
Mitotic Chromosome ◽  
Genetic Defect ◽  
Autosomal Recessive Disorder ◽  
Recq Helicase ◽  
Bloom's Syndrome ◽  
Binding Partners ◽  
Bloom’S Syndrome ◽  
Syndrome Protein ◽  
Blm Gene

Bloom's syndrome (BS) is a rare autosomal recessive disorder characterized by genomic instability and cancer predisposition. The underlying genetic defect is mutation of the BLM gene, producing deficiency in the RecQ helicase BLM (Bloom's syndrome protein). The present article begins by introducing BLM and its binding partners before reviewing its known biochemical activities and its potential roles both as a pro-recombinase and as a suppressor of homologous recombination. Finally, the evidence for an emerging role in mitotic chromosome segregation is examined.

scholarly journals Case Report: Diabetes in Chinese Bloom Syndrome

2021 ◽  
Vol 12 ◽  
Author(s):  
Mingqun Deng ◽  
Miao Yu ◽  
Ruizhi Jiajue ◽  
Kai Feng ◽  
Xinhua Xiao
Keyword(s):  
Case Report ◽  
Chinese Population ◽  
Autosomal Recessive ◽  
Molecular Mechanisms ◽  
Autosomal Recessive Disorder ◽  
Bloom Syndrome ◽  
Clinical Spectrum ◽  
Sequence Variant ◽  
First Case ◽  
Helicase Gene

Bloom syndrome (BS) is a rare autosomal recessive disorder that causes several endocrine abnormalities. So far, only one BS pedigree, without diabetes, has been reported in the Chinese population. We presented the first case of BS with diabetes in the Chinese population and explored the clinical spectrum associated with endocrine. Possible molecular mechanisms were also investigated. Our study indicated that BS may be one rare cause of diabetes in the Chinese population. We also found a new pathogenic sequence variant in BLM (BLM RecQ like helicase gene)(NM_000057.4) c.692T>G, which may expand the spectrum of BLM variants.

scholarly journals The DNA Helicase Activity of BLM Is Necessary for the Correction of the Genomic Instability of Bloom Syndrome Cells

1999 ◽  
Vol 10 (3) ◽  
pp. 665-676 ◽  
Author(s):  
Norma F. Neff ◽  
Nathan A. Ellis ◽  
Tian Zhang Ye ◽  
James Noonan ◽  
Kelly Huang ◽  
...  
Keyword(s):  
Genomic Instability ◽  
Nuclear Localization ◽  
Sister Chromatid ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Bloom Syndrome ◽  
Dna Helicase ◽  
Sister Chromatid Exchanges ◽  
Growth Deficiency ◽  
Chromatid Exchanges

Bloom syndrome (BS) is a rare autosomal recessive disorder characterized by growth deficiency, immunodeficiency, genomic instability, and the early development of cancers of many types. BLM, the protein encoded by BLM, the gene mutated in BS, is localized in nuclear foci and absent from BS cells. BLMencodes a DNA helicase, and proteins from three missense alleles lack displacement activity. BLM transfected into BS cells reduces the frequency of sister chromatid exchanges and restores BLM in the nucleus. Missense alleles fail to reduce the sister chromatid exchanges in transfected BS cells or restore the normal nuclear pattern. BLM complements a phenotype of aSaccharomyces cerevisiae sgs1 top3 strain, and the missense alleles do not. This work demonstrates the importance of the enzymatic activity of BLM for its function and nuclear localization pattern.

First Report of Transheterozygosity in a Patient with An Inherited Platelet Bleeding Disorder Due to Mutations in the Thromboxane A2 Receptor (TBXA2R) and cyclooxygenase1 (PTGS1),

Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. 3260-3260
Author(s):  
Kathleen Freson ◽  
Chantal Thys ◽  
Christel Van Geet
Keyword(s):  
Platelet Aggregation ◽  
Autosomal Recessive ◽  
Conflicts Of Interest ◽  
Autosomal Recessive Disorder ◽  
Bleeding Disorder ◽  
Bleeding Complications ◽  
Normal Platelet ◽  
First Case ◽  
Functional Defect ◽  
Sequencing Platforms

Abstract Abstract 3260 Platelet aggregation by thromboxane (TBXA2) stimulation of its G protein-coupled receptor TXA2R is initiated after conversion of arachidonic acid (AA) into prostaglandin H2 (PGH2) by cyclooxygenase1 (PTGS1) and subsequently by conversion of PGH2 into TXA2 by thromboxane synthase (TBXAS1). Hirata et al (JCI, 1994) reported the first TBXA2R mutation that resulted in reduced platelet responses to U46619 and low AA concentrations in subjects with a heterozygous R60L mutation. This functional defect in combination with mild clinical bleeding problems was only described for the one patient that was homozygous for this mutation. A second TBXA2 patient with an obvious bleeding diathesis carried a heterozygous D304N mutation but it was reported that this variant by itself could not explain the bleeding phenotype as other family members heterozygous for D304N presented with abnormal aggregation responses but no bleeding problems (Mumford, Blood, 2010). Functional SNPs in PTGS1 were described in pharmacogenetic studies including the L237M variant with 50% reduced COX1 metabolic activity but its effect on platelet function was not studied (Lee CR, Pharmacogenet Genomics, 2007). We here describe a 6-year old patient with ecchymosis, easy bruising and important post-traumatic bleeding complications after adenotonsillectomy and circumcision. The boy presents with normal coagulation parameters, normal platelet count and MPV, structurally normal platelets, normal ATP secretion by collagen, and the PFA100 closure time was normal for Col/Epi and mildly prolonged for Col/ADP. Platelet aggregation studies further showed an absent response to 1 mM AA as determined on different occasions, a reduced but not absent response to U46619 and a normal activation with ADP, ristocetin and Horm collagen. His parents and sister presented with increased sensitivity for ecchymoses but none had severe clinical bleeding problems and their platelets showed normal aggregation responses except for the father and sister with a reduced though not absent response to AA. Thromboxane B2 formation was determined and found to be normal in basal (plasma) and maximal stimulated (serum) conditions. In contrast, TXB2 levels were decreased after activation with U46619 for the patient but also for the father and sister compared to the control or mother. Activation with AA also resulted in reduced TXB2 levels for the patient and mildly reduced levels for all other family member compared to controls. This strongly suggests the presence of an autosomal recessive disorder. The TBXAS1, PTGS1 and TBXA2R genes were sequenced for the patient and we identified two heterozygous mutations in separate genes being R60H in TXBA2R and the functional L237M variant in PTGS1. Interestingly, his mother carried the L237M variant while R60H was present in father and sister with similar functional platelet defects as earlier described for the other heterogenous TBXA2R mutations but no clinical bleeding symptoms. To our knowledge, this is the first case of transheterozygosity for mutations explaining an autosomal recessive bleeding disorder. We hypothesize that this pattern of inheritance might be more common than expected and therefore this possibility should be taken into account when analyzing patients in the future using exome or genome wide sequencing platforms. Disclosures: No relevant conflicts of interest to declare.

scholarly journals First case of COVID-19 infection in a adult patient with Ellis-van Creveld Syndrome

2021 ◽  
Author(s):  
Isabelle Piazza ◽  
Paolo Ferrero
Keyword(s):  
Autosomal Recessive ◽  
Ectodermal Dysplasia ◽  
Heart Defects ◽  
Autosomal Recessive Disorder ◽  
Endocardial Cushions ◽  
Specific Therapy ◽  
Case Presentation ◽  
Septal Defects ◽  
First Case ◽  
Ellis Van Creveld Syndrome

Abstract Background: Ellis-van Creveld syndrome (EVC) is a rare autosomal recessive disorder, the features of the syndrome are: chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation resulting in dwarfism, teeth and craniofacial abnormalities and heart defects (mostly endocardial cushions and atrial septal defects). Case presentation: We describe the first case of COVID-19 infection in a 24-years-old girl, diagnosed with EVC syndrome. The patient suffered only from a mild illness, she remained stable with normal saturation without need of neither respiratory support nor specific therapy and she was rapidly discharged.Conclusions: This case appraises the pathophiosiologic interplay between different specific prognostic variable in a syndromic patient with congenital heart disease and COVID-19.

Sclerosing Hyaline Necrosis of the Liver in Bloom Syndrome

1999 ◽  
Vol 123 (4) ◽  
pp. 346-350 ◽  
Author(s):  
Jun Wang ◽  
Marcia E. Cornford ◽  
James German ◽  
Samuel W. French
Keyword(s):  
Liver Diseases ◽  
Autosomal Recessive ◽  
Small Body ◽  
Autosomal Recessive Disorder ◽  
Normal Liver ◽  
Bloom Syndrome ◽  
Facial Skin ◽  
Mallory Bodies ◽  
Eosinophilic Inclusions ◽  
First Time

Abstract Bloom syndrome is a rare autosomal recessive disorder characterized by normally proportioned but strikingly small body size, a characteristic facies and photosensitive facial skin lesion, immunodeficiency, and a marked predisposition to development of a variety of cancers. We describe here, we believe for the first time, pronounced sclerosing hyaline necrosis with Mallory bodies in the liver of a patient with Bloom syndrome. Mallory bodies are cytoplasmic eosinophilic inclusions, which are more common in visibly damaged, swollen hepatocytes in various liver diseases but are never found in normal liver. The possible pathogenesis of this finding in Bloom syndrome is discussed.

scholarly journals Severe generalized dystonia in paediatric onset wilsons disease

2019 ◽  
Vol 6 (6) ◽  
pp. 2720
Author(s):  
Jyothi A. ◽  
Subramanya N. K.
Keyword(s):  
Case Report ◽  
Wilson Disease ◽  
Transport Mechanism ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Neurological Involvement ◽  
Age Group ◽  
Systemic Involvement ◽  
First Case ◽  
Generalized Dystonia

Wilson disease (WD) is a rare autosomal recessive disorder with defect in copper transport mechanism with varied clinical manifestation predominantly hepatic, neurological, ophthalmological and multi-systemic involvement. WD in paediatrics  age group manifest differently from the adults.  In this case report, Authors have  described the first case report presenting with neurological involvement in the form of severe generalized dystonia in a paediatric onset WD. This case report is of greater significance in detecting the most often undetected paediatric WD presenting with a usual hepatic manifestation occurring early in the course.

scholarly journals Joubert Syndrome: Reports of Two Cases

2021 ◽  
Vol 39 (2) ◽  
pp. 132-136
Author(s):  
Gopen Kumar Kundu ◽  
Bikush Chandra Paul ◽  
Krishna Mohon Poddar
Keyword(s):  
Eye Movement ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Joubert Syndrome ◽  
Molar Tooth ◽  
Related Disorder ◽  
Intervention Measures ◽  
First Case ◽  
Magnetic Resonance Imaging Mri ◽  
Female Baby

Joubert syndrome related disorder(JSRD) is an autosomal recessive disorder characterized by hypotonia, abnormal eye movement,ataxia and breathing disturbance. The hall mark of the disease isthe presence of molar tooth malformationin magnetic resonance imaging (MRI) of brain. Diagnosis ofJSRD is based on clinical and neuro-radiological findings. Early and accurate diagnosis can help in planning the early intervention measures to reduce morbidity. Here, we report two cases. The first case, a 15 month old female baby, presented with hypotonia, polydactyly and seizure with molar tooth sign (MTS) in the MRI of brain.The second case, a three and a half-year-old child presented with developmental delay, hypotonia, abnormal eye movement, seizure and classical MTS in MRI of brain. J Bangladesh Coll Phys Surg 2021; 39(2): 132-136

scholarly journals Cold Induced Sweating Syndrome with Urinary System Anomaly Association

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Salim Aljabari ◽  
Emily Howard ◽  
Todd Bell ◽  
Tetyana L. Vasylyeva
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Cytokine Receptor ◽  
Cold Weather ◽  
Facial Features ◽  
High Grade ◽  
Urinary System ◽  
High Grade Fever ◽  
Rare Autosomal Recessive Disorder ◽  
First Case

Mutation in the cytokine receptor-like factor 1 and the cardiotrophin-like cytokine (CRLF1orCLCF1genes) phenotypically presents as cold induced sweating syndrome (CISS), which is a rare autosomal recessive disorder. The syndrome is characterized by paradoxical sweating in cold weather, dysmorphic facial features, musculoskeletal deformities, difficulty in feeding, and unexplained recurrent episodes of high-grade fever. We are presenting the first case of CISS with urinary system anomaly, which might relate to CRLF1/CLCF1 complex role in the embryonal nephrogenesis.

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