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Genetic syndrome

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https://www.readbyqxmd.com/read/29341862/identification-of-three-genetic-variants-as-novel-susceptibility-loci-for-body-mass-index-in-a-japanese-population
#1
Yoshiki Yasukochi, Jun Sakuma, Ichiro Takeuchi, Kimihiko Kato, Mitsutoshi Oguri, Tetsuo Fujimaki, Hideki Horibe, Yoshiji Yamada
Recent genome-wide association studies have identified various obesity or metabolic syndrome (MetS) susceptibility loci. However, most studies were conducted in a cross-sectional manner. To address this gap, we performed a longitudinal exome-wide association study to identify susceptibility loci for obesity and MetS in a Japanese population. We traced clinical data of 6022 Japanese who had annual health check-ups for several years (mean follow-up period, 5 years), and genotyped ~244,000 genetic variants. The association of single nucleotide polymorphisms (SNPs) with body mass index (BMI) or the prevalence of obesity and MetS was examined using a generalized estimating equation model...
January 12, 2018: Physiological Genomics
https://www.readbyqxmd.com/read/29341452/contribution-of-mlh1-constitutional-methylation-for-lynch-syndrome-diagnosis-in-patients-with-tumor-mlh1-downregulation
#2
Diana Pinto, Carla Pinto, Joana Guerra, Manuela Pinheiro, Rui Santos, Hege Marie Vedeld, Zeremariam Yohannes, Ana Peixoto, Catarina Santos, Pedro Pinto, Paula Lopes, Ragnhild Lothe, Guro Elisabeth Lind, Rui Henrique, Manuel R Teixeira
Constitutional epimutation of the two major mismatch repair genes, MLH1 and MSH2, has been identified as an alternative mechanism that predisposes to the development of Lynch syndrome. In the present work, we aimed to investigate the prevalence of MLH1 constitutional methylation in colorectal cancer (CRC) patients with abnormal expression of the MLH1 protein in their tumors. In a series of 38 patients who met clinical criteria for Lynch syndrome genetic testing, with loss of MLH1 expression in the tumor and with no germline mutations in the MLH1 gene (35/38) or with tumors presenting the BRAF p...
January 17, 2018: Cancer Medicine
https://www.readbyqxmd.com/read/29341397/bi-allelic-mutations-of-ccdc88c-are-a-rare-cause-of-severe-congenital-hydrocephalus
#3
Gaia Ruggeri, Andrew E Timms, Chi Cheng, Avery Weiss, Peter Kollros, Teresa Chapman, Hannah Tully, Ghayda M Mirzaa
Congenital or infantile hydrocephalus is caused by genetic and non-genetic factors and is highly heterogeneous in etiology. In recent studies, a limited number of genetic causes of hydrocephalus have been identified. To date, recessive mutations in the CCDC88C gene have been identified as a cause of non-syndromic congenital hydrocephalus in three reported families. Here, we report the fourth known family with two affected individuals with congenital hydrocephalus due to a homozygous mutation in the CCDC88C gene identified by whole exome sequencing...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29341259/child-syndrome-mimicking-verrucous-nevus-in-a-chinese-patient-responded-well-to-the-topical-therapy-of-compound-of-simvastatin-and-cholesterol
#4
Xia Yu, Jia Zhang, Yan Gu, Dan Deng, Zhouwei Wu, Lei Bao, Ming Li, Zhirong Yao
BACKGROUND: Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome is a rare X-linked dominant disorder characterized by peculiar cutaneous presentations and ipsilateral skeletal abnormalities. CHILD syndrome is caused by mutations in NSDHL gene, which involves in cholesterol synthesis. OBJECTIVES: To verify the diagnosis of CHILD syndrome and seek effective pathogenesis-based therapy with little side effects. METHOD: We comprehensively evaluated the patient's conditions...
January 17, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29341149/quality-of-life-implications-of-risk-reducing-cancer-surgery
#5
REVIEW
A M Altman, J Y C Hui, T M Tuttle
BACKGROUND: Modern advances in genetic sequencing techniques have allowed for increased availability of genetic testing for hereditary cancer syndromes. Consequently, more people are being identified as mutation carriers and becoming aware of their increased risk of malignancy. Testing is commonplace for many inheritable cancer syndromes, and with that comes the knowledge of being a gene carrier for some patients. With increased risk of malignancy, many guidelines recommend that gene carriers partake in risk reduction strategies, including risk-reducing surgery for some syndromes...
January 2018: British Journal of Surgery
https://www.readbyqxmd.com/read/29340884/-i-would-like-to-discuss-it-further-with-an-expert-a-focus-group-study-of-finnish-adults-perspectives-on-genetic-secondary-findings
#6
M Vornanen, K Aktan-Collan, N Hallowell, H Konttinen, H Kääriäinen, A Haukkala
Lowered costs of genomic sequencing facilitate analyzing large segments of genetic data. Ethical debate has focused on whether and what kind of incidental or secondary findings (SFs) to report, and how to obtain valid informed consent. However, people's support needs after receiving SFs have received less attention. We explored Finnish adults' perspectives on reporting genetic SFs. In this qualitative study which included four focus group discussions (N = 23) we used four vignette letters, each reporting a genetic SF predisposing to a different disease: familial hypercholesterolemia, long QT syndrome, Lynch syndrome, and Li-Fraumeni syndrome...
January 16, 2018: Journal of Community Genetics
https://www.readbyqxmd.com/read/29340157/hypocalcemia-due-to-22q11-2-deletion-syndrome-diagnosed-in-adulthood
#7
Maria Cabrer, Guillermo Serra, María Soledad Gogorza, Vicente Pereg
Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a genetic syndrome that may present with hypocalcemia due to primary hypoparathyroidism (PH) at any age. We report a new diagnosis of 22q11.2DS in a 57-year-old man who presented with symptomatic hypocalcemia. It is important to consider genetic causes of hypocalcemia due to PH regardless of age. Learning points: It is important to discard genetic cause of primary hypoparathyroidism in a patient without autoimmune disease or prior neck surgery...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29340132/effect-of-epilepsy-on-autism-symptoms-in-angelman-syndrome
#8
Kristin A Bakke, Patricia Howlin, Lars Retterstøl, Øivind J Kanavin, Arvid Heiberg, Terje Nærland
Background: Autism spectrum disorder and epilepsy often co-occur; however, the extent to which the association between autism symptoms and epilepsy is due to shared aetiology or to the direct effects of seizures is a topic of ongoing debate. Angelman syndrome (AS) is presented as a suitable disease model to explore this association. Methods: Data from medical records and questionnaires were used to examine the association between age of epilepsy onset, autism symptoms, genetic aberration and communication level...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29339962/three-new-pax2-gene-mutations-in-patients-with-papillorenal-syndrome
#9
Alberto Galvez-Ruiz, Anthony J Lehner, Alicia Galindo-Ferreiro, Patrik Schatz
Papillorenal syndrome (PAPRS; Mendelian Inheritance in Man [MIM] 120330) is an autosomal dominant disease characterised by the presence of congenital renal and optic nerve abnormalities associated with mutations of the PAX2 gene. In this article, the authors present four patients with PAPRS who are carriers of three new PAX2 mutations, as well as another patient with a possible non-pathogenic variant of the PAX2 gene. All patients were given a full neurophthalmological examination, and all patients underwent a genetic test for PAX2...
October 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/29339836/the-role-of-metabolic-enzymes-in-mesenchymal-tumors-and-tumor-syndromes-genetics-pathology-and-molecular-mechanisms
#10
REVIEW
Inga-Marie Schaefer, Jason L Hornick, Judith V M G Bovée
The discovery of mutations in genes encoding the metabolic enzymes isocitrate dehydrogenase (IDH), succinate dehydrogenase (SDH), and fumarate hydratase (FH) has expanded our understanding not only of altered metabolic pathways but also epigenetic dysregulation in cancer. IDH1/2 mutations occur in enchondromas and chondrosarcomas in patients with the non-hereditary enchondromatosis syndromes Ollier disease and Maffucci syndrome and in sporadic tumors. IDH1/2 mutations result in excess production of the oncometabolite (D)-2-hydroxyglutarate...
January 16, 2018: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/29339765/mutations-in-bassoon-in-individuals-with-familial-and-sporadic-progressive-supranuclear-palsy-like-syndrome
#11
Ichiro Yabe, Hiroaki Yaguchi, Yasutaka Kato, Yasuo Miki, Hidehisa Takahashi, Satoshi Tanikawa, Shinichi Shirai, Ikuko Takahashi, Mari Kimura, Yuka Hama, Masaaki Matsushima, Shinsuke Fujioka, Takahiro Kano, Masashi Watanabe, Shin Nakagawa, Yasuyuki Kunieda, Yoshio Ikeda, Masato Hasegawa, Hiroshi Nishihara, Toshihisa Ohtsuka, Shinya Tanaka, Yoshio Tsuboi, Shigetsugu Hatakeyama, Koichi Wakabayashi, Hidenao Sasaki
Clinical diagnosis of progressive supranuclear palsy (PSP) is sometimes difficult because various phenotypes have been identified. Here, we report a mutation in the bassoon (BSN) gene in a family with PSP-like syndrome. Their clinical features resembled not only those of PSP patients but also those of individuals with multiple system atrophy and Alzheimer's disease. The neuropathological findings showed a novel three + four repeat tauopathy with pallido-luysio-nigral degeneration and hippocampal sclerosis...
January 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29339661/a-novel-foxl2-mutation-implying-blepharophimosis-ptosis-epicanthus-inversus-syndrome-type-i
#12
Fang Li, Peiwei Chai, Jiayan Fan, Xi Wang, Wenjuan Lu, Jin Li, Shengfang Ge, Renbing Jia, He Zhang, Xianqun Fan
BACKGROUND/AIMS: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disease caused by FOXL2 gene mutations, and it is clinically characterized by an eyelid malformation associated (type I) or not (type II) with premature ovarian failure (POF). Functional study of novel mutations is especially critical for female patients, as it may allow the prediction of infertility and early planning of an appropriate therapy. METHODS: A clinical and molecular genetic investigation was performed in all members of a Chinese family with BPES...
January 15, 2018: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29339473/identification-of-thioredoxin-interacting-protein-txnip-as-a-downstream-target-for-igf1-action
#13
Karthik Nagaraj, Lena Lapkina-Gendler, Rive Sarfstein, David Gurwitz, Metsada Pasmanik-Chor, Zvi Laron, Shoshana Yakar, Haim Werner
Laron syndrome (LS), or primary growth hormone (GH) insensitivity, is the best-characterized entity among the congenital insulin-like growth factor 1 (IGF1) deficiencies. Life-long exposure to minute endogenous IGF1 levels is linked to low stature as well as a number of endocrine and metabolic abnormalities. While elevated IGF1 is correlated with increased cancer incidence, epidemiological studies revealed that patients with LS do not develop tumors. The mechanisms associated with cancer protection in LS are yet to be discovered...
January 16, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29339408/development-of-the-swimbladder-surfactant-system-and-biogenesis-of-lysosome-related-organelles-is-regulated-by-blos1-in-zebrafish
#14
Tianbing Chen, Guili Song, Huihui Yang, Lin Mao, Zongbin Cui, Kaiyao Huang
Hermansky-Pudlak syndrome (HPS) is a human autosomal recessive disorder that is characterized by oculocutaneous albinism and a deficiency of the platelet storage pool resulting from defective biogenesis of lysosome-related organelles (LROs). To date, ten HPS genes have been identified, three of which belong to the octamer complex BLOC-1 (biogenesis of lysosome-related organelles complex 1). One subunit of the BLOC-1 complex, BLOS1, also participates in the BLOC-1-related complex (BORC). Due to lethality at the early embryo stage in BLOS1 knockout mice, the function of BLOS1 in the above two complexes and whether it has a novel function are unclear...
January 16, 2018: Genetics
https://www.readbyqxmd.com/read/29339108/phenotype-in-girls-and-women-with-turner-syndrome-association-between-dysmorphic-features-karyotype-and-cardio-aortic-malformations
#15
Iris Noordman, Anthonie Duijnhouwer, Livia Kapusta, Marlies Kempers, Nel Roeleveld, Michiel Schokking, Dominique Smeets, Kim Freriks, Henri Timmers, Janiëlle van Alfen-van der Velden
INTRODUCTION: Turner syndrome (TS) is a genetic disorder characterized by the (partial) absence or a structural aberration of the second sex chromosome and is associated with a variety of phenotypes with specific physical features and cardio-aortic malformations. The objective of this study was to gain a better insight into the differences in dysmorphic features between girls and women with TS and to explore the association between these features, karyotype and cardio-aortic malformations...
January 12, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29338536/p2y12-receptor-inhibitors-an-evolution-in-drug-design-to-prevent-arterial-thrombosis
#16
Danny Kupka, Dirk Sibbing
P2Y12 inhibitors are a critical component of dual antiplatelet therapy (DAPT) - a combination of a P2Y12 receptor inhibitor and aspirin - which is the superior strategy to prevent arterial thrombosis in patients with acute coronary syndromes (ACS) and undergoing stent implantation. Areas covered: Basic science articles, clinical studies, and reviews from 1992-2017 were searched using Pubmed library to collet impactful literature. After an introduction to the purinergic receptor biology, this review summarizes current knowledge on P2Y12 receptor inhibitors including their specific pharmacodynamic as well as pharmacokinetic and drug interaction features...
January 17, 2018: Expert Opinion on Drug Metabolism & Toxicology
https://www.readbyqxmd.com/read/29336911/-detection-and-characterization-of-shiga-toxin-producing-escherichia-coli-in-children-treated-at-an-inter-zonal-pediatric-hospital-in-the-city-of-la-plata
#17
Sebastián Oderiz, Gerardo A Leotta, Lucía Galli
Shiga toxin-producing Escherichia coli (STEC) is a foodborne pathogen that can cause watery diarrhea, bloody diarrhea (BD), and hemolytic uremic syndrome (HUS). The objective of this study was to determine the phenotypic and genotypic profiles of STEC strains isolated from children with BD and HUS treated at a pediatric hospital in the city of La Plata in the period 2006-2012, and to establish the clonal relationship of O157:H7 isolates by pulsed field electrophoresis. The percentage of positive samples was 4...
January 11, 2018: Revista Argentina de Microbiología
https://www.readbyqxmd.com/read/29336661/cancer-related-genetic-testing-and-personalized-medicine-for-adolescents-a-narrative-review-of-impact-and-understanding
#18
Janine Vetsch, Claire E Wakefield, Meera Warby, Katherine Tucker, Pandora Patterson, Brittany C McGill, Alison Metcalfe, Richard J Cohn, Joanna E Fardell
Genetic testing is becoming increasingly available for adolescents who are undergoing cancer treatment or at risk of cancer predisposition syndromes. With this narrative review, we aimed to synthesize the evidence on psychosocial outcomes and adolescents' understanding of genetic testing-thus far, an underresearched topic. Both psychological benefits and harms of predictive testing were reported in adolescents from high-risk families. Harms were mainly related to cancer-specific distress and increased worries...
January 16, 2018: Journal of Adolescent and Young Adult Oncology
https://www.readbyqxmd.com/read/29336640/novel-rnaset2-pathogenic-variants-in-an-east-asian-child-with-delayed-psychomotor-development
#19
Yan Sun, Xuyun Hu, Jiqing Song, Yanyan Hu, Caihong Liu, Guimei Li
INTRODUCTION: RNASET2 mutation has been reported in patients with cystic leukoencephalopathy without megalencephaly and the Aicardi-Goutieres syndrome. Both disorders are Mendelian mimics of congenital cytomegalovirus infection with overlapping features, including leukoencephalopathy, white matter alterations, intracranial calcification, delayed psychomotor development, intelligence disability and seizures. Only eight families with RNASET2 mutation have been previously reported. METHODS: Whole exome sequencing was performed and copy number variants were described by read-depth strategy...
January 16, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29336632/m%C3%A3-bius-syndrome-with-cardiac-rhabdomyomas
#20
Aimee Verner, Swati Agarwal-Sinha, Frank Yanfeng Han
BACKGROUND: Möbius syndrome is a rare congenital condition which presents not merely with 6th and 7th nerve palsies, but involves gaze paresis associated with craniofacial, limb, and other abnormalities. Heterogeneity is well known in patients with Möbius syndrome and rather than being of familial inheritance based on rare cases, it is much more recognized as a sporadic syndrome. We report an infant with features of congenital Möbius syndrome associated with cardiac rhabdomyomas in the absence of tuberous sclerosis...
January 16, 2018: Ophthalmic Genetics
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