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Genetic syndrome

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https://www.readbyqxmd.com/read/28549150/primary-congenital-and-developmental-glaucomas
#1
Carly Lewis, Adam Hedberg-Buenz, Adam P DeLuca, Edwin M Stone, Wallace L M Alward, John H Fingert
Glaucoma is the leading cause of irreversible blindness worldwide. Although most glaucoma patients are elderly, congenital glaucoma and glaucomas of childhood are also important causes of visual disability. Primary congenital glaucoma (PCG) is isolated, non-syndromic glaucoma that occurs in the first three years of life and is a major cause of childhood blindness. Other early-onset glaucomas may arise secondary to developmental abnormalities, such as glaucomas that occur with aniridia or as part of Axenfeld-Rieger syndrome...
May 26, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28548933/kir2dl5-mutation-and-loss-underlies-sporadic-dermal-neurofibroma-pathogenesis-and-growth
#2
Corina Anastasaki, Sonika Dahiya, David H Gutmann
Dermal neurofibromas (DNFs) are benign peripheral nerve sheath tumors thought to originate from Schwann cell progenitors. These tumors represent one of the hallmarks of the neurofibromatosis type 1 (NF1) tumor predisposition syndrome, where they can number in the thousands. While NF1-DNFs arise due to mutations in the NF1 gene, the vast majority of DNFs occur sporadically (sp-DNFs), where the genetic etiology is currently unknown. Herein, we employed whole-exome sequencing of sp-DNFs to identify a recurrent mutation in the KIR2DL5 gene, which codes for a protein suppressor of natural killer (NK) cell activity...
May 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/28548215/protein-z-and-endothelin-1-genetic-polymorphisms-in-pediatric-egyptian-sickle-cell-disease-patients
#3
Mervat M Khorshied, Nohair S Mohamed, Rania S Hamza, Rasha M Ali, Mona K El-Ghamrawy
BACKGROUND: Sickle cell disease (SCD) is a monogenic disease associated with multisystem morbidity. Vasculopathy caused by delicate imbalance between coagulation and endothelial systems plays a pivotal role in disease course. As Protein Z and Endothelin-1 genetic polymorphisms may increase the thrombotic risk, the aim of the current work was to verify the possible impact of Protein Z (PROZ G79A) and Endothelin-1 (EDN1 G5665T) polymorphisms on the clinic-laboratory features of the SCD in a cohort of Egyptian pediatric patients...
May 26, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28548127/mismatch-repair-deficiency-commonly-precedes-adenoma-formation-in-lynch-syndrome-associated-colorectal-tumorigenesis
#4
Shigeki Sekine, Taisuke Mori, Reiko Ogawa, Masahiro Tanaka, Hiroshi Yoshida, Hirokazu Taniguchi, Takeshi Nakajima, Kokichi Sugano, Teruhiko Yoshida, Mamoru Kato, Eisaku Furukawa, Atsushi Ochiai, Nobuyoshi Hiraoka
Lynch syndrome is a cancer predisposition syndrome caused by germline mutations in mismatch repair (MMR) genes. MMR deficiency is a ubiquitous feature of Lynch syndrome-associated colorectal adenocarcinomas; however, it remains unclear when the MMR-deficient phenotype is acquired during tumorigenesis. To probe this issue, the present study examined genetic alterations and MMR statuses in Lynch syndrome-associated colorectal adenomas and adenocarcinomas, in comparison with sporadic adenomas. Among the Lynch syndrome-associated colorectal tumors, 68 of 86 adenomas (79%) and all adenocarcinomas were MMR-deficient, whereas all the sporadic adenomas were MMR-proficient, as determined by microsatellite instability testing and immunohistochemistry for MMR proteins...
May 26, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28548124/oligomonocytic-chronic-myelomonocytic-leukemia-chronic-myelomonocytic-leukemia-without-absolute-monocytosis-displays-a-similar-clinicopathologic-and-mutational-profile-to-classical-chronic-myelomonocytic-leukemia
#5
Julia T Geyer, Wayne Tam, Yen-Chun Liu, Zhengming Chen, Sa A Wang, Carlos Bueso-Ramos, Jean Oak, Daniel A Arber, Eric Hsi, Heesun J Rogers, Katherine Levinson, Adam Bagg, Duane C Hassane, Robert P Hasserjian, Attilio Orazi
Chronic myelomonocytic leukemia is characterized by persistent absolute monocytosis (≥1 × 10(9)/l) in the peripheral blood and dysplasia in ≥1 lineages. In the absence of dysplasia, an acquired clonal genetic abnormality is required or causes for reactive monocytosis have to be excluded. Oligomonocytic chronic myelomonocytic leukemia showing increased monocytes but no absolute monocytosis in the peripheral blood occurs occasionally. These cases are likely classified as myelodysplastic syndrome or myelodysplastic/myeloproliferative neoplasm, unclassifiable...
May 26, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28547523/cutaneous-manifestations-of-medium-and-large-vessel-vasculitis
#6
REVIEW
Francois Chasset, Camille Francès
Dermatologic manifestations are observed in almost all systemic vasculitides, even in large-and medium-vessel vasculitides, although such vessels are not found in the skin. Cutaneous manifestations may be related to a direct skin localization of the systemic vasculitis or a non-specific process associated with the vasculitis. According to the 2012 International Chapel Hill consensus, the two major variants of large-vessel vasculitides are Takayasu arteritis and giant-cell arteritis. In Europe and North America, acute inflammatory nodules or erythema nodosum-like lesions are the most commonly observed skin lesions with Takayasu arteritis...
May 26, 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/28546999/a-birth-of-bipartite-exon-by-intragenic-deletion
#7
Kandai Nozu, Kazumoto Iijima, Toru Igarashi, Shiro Yamada, Jana Kralovicova, Yoshimi Nozu, Tomohiko Yamamura, Shogo Minamikawa, Ichiro Morioka, Takeshi Ninchoji, Hiroshi Kaito, Koichi Nakanishi, Igor Vorechovsky
BACKGROUND: Disease-causing mutations that activate transposon-derived exons without creating a new splice-site consensus have been reported rarely, but they provided unique insights into our understanding of structural motifs required for inclusion of intronic sequences in mature transcripts. METHODS: We employ a combination of experimental and computational techniques to characterize the first de novo bipartite exon activation in genetic disease. RESULTS: The exon originated from two separate introns as a result of an in-frame COL4A5 deletion associated with a typical Alport syndrome...
May 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28546535/a-novel-prkag2-mutation-in-a-chinese-family-with-cardiac-hypertrophy-and-ventricular-pre-excitation
#8
Kun-Qi Yang, Chao-Xia Lu, Ying Zhang, Yan-Kun Yang, Jia-Cheng Li, Tian Lan, Xu Meng, Peng Fan, Tao Tian, Lin-Ping Wang, Ya-Xin Liu, Xue Zhang, Xian-Liang Zhou
PRKAG2 syndrome is a rare autosomal dominant inherited disorder that is characterized by cardiac hypertrophy, ventricular pre-excitation and conduction system abnormalities. There is little knowledge in cardiovascular magnetic resonance (CMR) characteristics of PRKAG2 cardiomyopathy. This study investigated the genetic defect in a three-generation Chinese family with cardiac hypertrophy and ventricular pre-excitation using whole-exome sequencing. A novel missense mutation, c.1006 G > T (p.V336L), was identified in PRKAG2...
May 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28546443/astronaut-ophthalmic-syndrome
#9
Sara R Zwart, Charles R Gibson, Jesse F Gregory, Thomas H Mader, Patrick J Stover, Steven H Zeisel, Scott M Smith
During and after missions on the International Space Station, some astronauts experience ophthalmic changes, including choroidal folds, optic disc edema, cotton-wool spots, globe flattening, and refraction changes. Astronauts with ophthalmic issues had significantly higher plasma concentrations of metabolites that are associated with the 1-carbon metabolic pathway than those without ophthalmic issues. We hypothesized that genetic differences might explain the metabolite differences. Indeed, genetics and B vitamin status were significant predictors of ophthalmic issues...
May 25, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28545855/-a-complex-case-of-diabetes-due-to-lmna-mutation
#10
C Ambonville, M-A Bouldouyre, P Laforêt, P Richard, O Benveniste, C Vigouroux
INTRODUCTION: Laminopathies (diseases related to A/C mutations of lamines) are rare genetic diseases with an extensive phenotypic spectrum, including lipodystrophic syndromes-characterized by a selective loss of adipose tissue-of which the partial Dunnigan family type is the most frequent. CASE REPORT: We report on a 55-year-old woman with diabetes and long-term disabling myalgia. Her cushingoid morphotype, associated with cutaneous lipo-atrophy and muscle hypertrophy in addition to a genetic heritage, led us to the diagnosis of complex partial familial lipodystrophy heterozygous LMNA_c...
May 22, 2017: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/28545763/13-ribs-as-a-predictor-of-long-gap-esophageal-atresia-myth-or-reality-analysis-of-associated-findings-of-esophageal-atresia-and-abnormal-rib-count
#11
Jonathan Durell, Haitham Dagash, Bala Eradi, Ashok Rajimwale, Shawqui Nour, Nitin Patwardhan
BACKGROUND: The presence of 13 pairs of ribs on pre-operative chest x-ray has been postulated to be an indicator for long gap esophageal atresia (EA). This study sought to determine the validity of this theory and identify associated pathological conditions in patients with EA and abnormal rib count. METHODS: Babies with EA from January 2005 - December 2012 were retrospectively analyzed. Information was gathered from neonatal health records and operation notes. Chest x-rays were reviewed to determine rib count...
May 2, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28545508/open-label-versus-double-blind-placebo-treatment-in-irritable-bowel-syndrome-study-protocol-for-a-randomized-controlled-trial
#12
Sarah Ballou, Ted J Kaptchuk, William Hirsch, Judy Nee, Johanna Iturrino, Kathryn T Hall, John M Kelley, Vivian Cheng, Irving Kirsch, Eric Jacobson, Lisa Conboy, Anthony Lembo, Roger B Davis
BACKGROUND: Placebo medications, by definition, are composed of inactive ingredients that have no physiological effect on symptoms. Nonetheless, administration of placebo in randomized controlled trials (RCTs) and in clinical settings has been demonstrated to have significant impact on many physical and psychological complaints. Until recently, conventional wisdom has suggested that patients must believe that placebo pills actually contain (or, at least, might possibly contain) active medication in order to elicit a response to placebo...
May 25, 2017: Trials
https://www.readbyqxmd.com/read/28545381/prevalence-and-clinical-significance-of-visible-oral-lesions-in-patients-with-fanconi-anemia-at-risk-for-head-and-neck-cancer
#13
Eunike Velleuer, Ralf Dietrich, Amy Frohnmayer, Natalia Pomjanski, Laura E Hays, Stefan Biesterfeld
Fanconi anemia is a genetic bone marrow failure syndrome, variably associated with congenital anomalies and a sharply increased risk for epithelial malignancies. During the past 20 years, hematopoietic stem cell transplantation (HSCT) has dramatically improved survival. However, compared to the general population, FA patients are at greatly increased risk, and at a much younger age, for squamous cell carcinomas (SCC) of the oral cavity, esophagus and the anogenital region. The relative risk and age of onset appears to negatively correlate with HSCT in FA patients...
May 24, 2017: Current Drug Targets
https://www.readbyqxmd.com/read/28545008/psychiatric-disorders-in-a-cohort-of-individuals-with-prader-willi-syndrome
#14
L Shriki-Tal, H Avrahamy, Y Pollak, V Gross-Tsur, L Genstil, H J Hirsch, F Benarroch
BACKGROUND: Psychiatric manifestations in Prader-Willi Syndrome (PWS) are common and often are the most debilitating problem in these individuals. We present an epidemiological nation-wide survey of psychiatric diagnoses in the PWS population, based on full-range psychiatric interviews. METHODS: We studied the distribution of psychiatric diagnoses (as opposed to a symptom-based approach) in the Israel national cohort of adolescents and adults with PWS. There was a total of 53 (32 males) ages 12 years and older...
April 5, 2017: European Psychiatry: the Journal of the Association of European Psychiatrists
https://www.readbyqxmd.com/read/28544908/childhood-tumours-with-a-high-probability-of-being-part-of-a-tumour-predisposition-syndrome-reason-for-referral-for-genetic-consultation
#15
REVIEW
Floor A M Postema, Saskia M J Hopman, Cora M Aalfs, Lieke P V Berger, Fonnet E Bleeker, Charlotte J Dommering, Marjolijn C J Jongmans, Tom G W Letteboer, Maran J W Olderode-Berends, Anja Wagner, Raoul C Hennekam, Johannes H M Merks
INTRODUCTION: Recognising a tumour predisposition syndrome (TPS) in childhood cancer patients is of major clinical relevance. The presence of a TPS may be suggested by the type of tumour in the child. We present an overview of 23 childhood tumours that in themselves should be a reason to refer a child for genetic consultation. METHODS: We performed a PubMed search to review the incidence of TPSs in children for 85 tumour types listed in the International Classification of Childhood Cancer third edition (ICCC-3)...
May 22, 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/28544889/juvenile-myoclonic-epilepsy-as-a-spectrum-disorder-a-focused-review
#16
REVIEW
Betül Baykan, Peter Wolf
In consequence of newer research juvenile myoclonic epilepsy (JME) is no longer seen as a homogeneous disease. The causes of the existing variance are only partially known yet. We discuss to what extent the phenotypical spectrum of this polygenetically determined disorder expresses genetically defined endophenotypes, or is due to mere quantitative differences in the expression of the core phenotype. Of the three common seizure types of JME, myoclonic, generalized tonic-clonic and absences, absences also occur independently and are strong candidates for an endophenotype...
May 18, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28544751/constitutional-abnormalities-of-idh1-combined-with-secondary-mutations-predispose-a-patient-with-maffucci-syndrome-to-acute-lymphoblastic-leukemia
#17
Shinsuke Hirabayashi, Masafumi Seki, Daisuke Hasegawa, Motohiro Kato, Nobuyuki Hyakuna, Takuya Shuo, Shunsuke Kimura, Kenichi Yoshida, Keisuke Kataoka, Yoichi Fujii, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Nobutaka Kiyokawa, Satoru Miyano, Seishi Ogawa, Junko Takita, Atsushi Manabe
Maffucci syndrome is a nonhereditary disorder caused by somatic mosaic isocitrate dehydrogenase 1 or 2 (IDH1 or IDH2) mutations and is characterized by multiple enchondromas along with hemangiomas. Malignant transformation of enchondromas to chondrosarcomas and secondary neoplasms, such as brain tumors or acute myeloid leukemia, are serious complications. A 15-year-old female with Maffucci syndrome developed B-cell precursor acute lymphoblastic leukemia (BCP-ALL). A somatic mutation in IDH1 was detected in hemangioma and leukemic cells...
May 24, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28544699/renal-anomalies-and-lymphedema-distichiasis-syndrome-a-rare-association
#18
Gabriela E Jones, Anna K Richmond, Osric Navti, Hatem A Mousa, Stephen Abbs, Edward Thompson, Sahar Mansour, Pradeep C Vasudevan
Lymphedema distichiasis syndrome (LDS) is a rare, autosomal dominant genetic condition, characterized by lower limb lymphedema and distichiasis. Other associated features that have been reported include varicose veins, cleft palate, congenital heart defects, and ptosis. We update a previously reported family with a pathogenic variant in FOXC2 (c.412-413insT) where five affected individuals from the youngest generation had congenital renal anomalies detected on prenatal ultrasound scan. These included four fetuses with hydronephrosis and one with bilateral renal agenesis...
May 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28544139/rettbase-rett-syndrome-database-update
#19
Rahul Krishnaraj, Gladys Ho, John Christodoulou
Rett syndrome (RTT) is an X-linked progressive neurodevelopmental disorder that primarily affects females. Mutations in the MECP2 gene have been attributed as the major genetic cause of Rett syndrome. Recently, mutations in CDKL5 and FOXG1 genes have also been suggested to give rise to Rett syndrome, although subsequent more extensive studies suggest that diseases resulting from mutations in these two genes should be considered as distinct clinical entities. While the genetic basis for the Rett syndrome has been recognized, so far there is no effective cure for the disease and the treatments available are mainly aimed at ameliorating clinical problems associated with the disorder...
May 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/28544109/express-with-caution-epitope-tags-and-cdna-variants-effects-on-herg-channel-trafficking-half-life-and-function
#20
Marika L Osterbur Badhey, Alexander C Bertalovitz, Thomas V McDonald
INTRODUCTION: Genetic mutations in KCNQ2 which encodes hERG, the alpha subunit of the potassium channel responsible for the IKr current, cause Long QT Syndrome, an inherited cardiac arrhythmia disorder. Electrophysiology techniques are used to correlate genotype with molecular phenotype to determine which mutations identified in patients diagnosed Long QT Syndrome are disease causing, and which are benign. These investigations are usually done using heterologous expression in cell lines, and often, epitope fusion tags are used to enable isolation and identification of the protein of interest...
May 24, 2017: Journal of Cardiovascular Electrophysiology
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