88,041 results match your criteria Hereditary Spastic Paraplegia


[Genetic profiling in the diagnosis of hereditary prostate cancer: Where do we stand?]

Aktuelle Urol 2018 Dec 6;49(6):525-529. Epub 2018 Dec 6.

Johannes Gutenberg Universitat Universitatsmedizin, Klinik und Poliklinik für Urologie und Kinderurologie, Mainz.

Prostate cancer has a heterogeneous genetic profile compared with other tumour entities. Accordingly, there are also various mutations that increase the risk of prostate cancer. Some genetic variants only have a mild impact, whereas other gene mutations (BRCA1 /2; HOXB13) may increase the risk significantly. Read More

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December 2018
4 Reads

Combined juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia (JPS/HHT) with MRI and endoscopic correlation.

Clin Imaging 2018 Dec 2;54:37-39. Epub 2018 Dec 2.

Department of Radiology, Beth Israel Deaconess Medical Center, 330 Brookline Ave., Boston, MA 02215, USA.

Juvenile polyposis syndrome (JPS) may coexist with hereditary hemorrhagic telangiectasia (HHT) due to implication of the SMAD4 gene in a subset of both diseases. To the best of our knowledge, we present the first case in the radiologic literature on the MRI findings in a patient with this rare combined diagnosis undergoing workup for burden of disease. Read More

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December 2018
2 Reads

A PALB2 truncating mutation: Implication in cancer prevention and therapy of Hereditary Breast and Ovarian Cancer.

Breast 2018 Nov 29;43:91-96. Epub 2018 Nov 29.

Cancer Genetics Group, Institute of Genetics and Molecular Biology (UVa-CSIC), Sanz y Forés 3, 47003 Valladolid, Spain. Electronic address:

Explaining genetic predisposition in Hereditary Breast and Ovarian Cancer (HBOC) families without BRCA mutations is crucial. Germline PALB2 inactivating mutations were associated with an increased risk of HBOC due to its role in DNA repair through cooperation with BRCA proteins. The prevalence and penetrance of PALB2 mutations in Spanish HBOC patients remains unexplained. Read More

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November 2018
2 Reads

Loss of enzyme activity in mutated B4GALNT1 gene products in patients with hereditary spastic paraplegia results in relatively mild neurological disorders: Similarity with phenotypes of B4galnt1 knockout mice.

Neuroscience 2018 Dec 3. Epub 2018 Dec 3.

Department of Biomedical Sciences, College of Life and Health Sciences, Chubu University, Kasugai 487-8501, Japan; Department of Biochemistry II, Nagoya University Graduate School of Medicine, Nagoya 466-0065, Japan. Electronic address:

B4GALNT1 is an enzyme essential for the synthesis of complex gangliosides, whose absence leads to progressive neurodegeneration with aging in mice. Recently, eleven cases of hereditary spastic paraplegia with mutation in the coding region of B4GALNT1 were reported. However, changes in the enzymatic activity of their products have never been studied. Read More

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December 2018
2 Reads

Gut microbiota signatures in cystic fibrosis: Loss of host CFTR function drives the microbiota enterophenotype.

PLoS One 2018 6;13(12):e0208171. Epub 2018 Dec 6.

Unit of Human Microbiome, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Background: Cystic fibrosis (CF) is a disorder affecting the respiratory, digestive, reproductive systems and sweat glands. This lethal hereditary disease has known or suspected links to the dysbiosis gut microbiota. High-throughput meta-omics-based approaches may assist in unveiling this complex network of symbiosis modifications. Read More

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December 2018
1 Read

Hereditary Spastic Paraplegia: gain-of-function mechanisms revealed by new transgenic mouse.

Hum Mol Genet 2018 Dec 6. Epub 2018 Dec 6.

Department of Neurobiology and Anatomy.

Mutations of the SPAST gene, which encodes the microtubule-severing protein spastin, are the most common cause of Hereditary Spastic Paraplegia. Haploinsufficiency is the prevalent opinion as to the mechanism of the disease, but gain-of-function toxicity of the mutant proteins is another possibility. Here, we report a new transgenic mouse (termed SPASTC448Y mouse) that is not haploinsufficient but expresses human spastin bearing the HSP pathogenic C448Y mutation. Read More

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December 2018

Early-onset colorectal cancer in young individuals.

Mol Oncol 2018 Dec 6. Epub 2018 Dec 6.

Niguarda Cancer Center, Grande Ospedale Metropolitano Niguarda, and Dipartimento di Oncologia e Emato-Oncologia, Università degli Studi di Milano (La Statale), Milan, Italy.

Treatment of young adults with colorectal cancer (CRC) represents an unmet clinical need, especially as diagnosis in this population might lead to the greatest loss of years of life. Since 1994, CRC incidence in individuals younger than 50 years has been increasing by 2% per year. The surge of CRC incidence in young adults is particularly alarming as the overall CRC frequency has been decreasing. Read More

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December 2018

Links Between Strokes and Hereditary Hemorrhagic Telangiectasia: A Population-Based Study.

Can J Neurol Sci 2018 Dec 6:1-7. Epub 2018 Dec 6.

Department of Medicine, Division of Pulmonary,University of Alberta,Edmonton, Alberta,Canada.

Background: Hereditary hemorrhagic telangiectasia (HHT) is a disease of abnormal vasculature where patients are predisposed to strokes of multiple etiologies. We assessed yearly stroke incidence among Albertans with HHT and compared with the general population. Given the tendency for stroke in HHT patients, we expected HHT patients to have higher stroke incidence, in particular at younger ages. Read More

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December 2018

Cardiac Involvement in Emery-Dreifuss Muscular Dystrophy and Related Management Strategies.

Int Heart J 2018 Dec 5. Epub 2018 Dec 5.

Department of Cardiovascular Medicine, Second Xiangya Hospital of Central South University.

Emery-Dreifuss muscular dystrophy (EDMD) is a group of hereditary muscular dystrophy syndrome caused by deficiency of genes encoding nuclear envelope proteins. Patients having EDMD show the triad of muscle dystrophy, joint contracture, and cardiac disease. In almost all patients, cardiac involvement is prevalent and is the most severe aspect of EDMD. Read More

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December 2018

Randomized trial of intravenous iron-induced hypophosphatemia.

JCI Insight 2018 Dec 6;3(23). Epub 2018 Dec 6.

AMAG Pharmaceuticals, Inc., Waltham, Massachusetts, USA.

Background: Hypophosphatemia can complicate intravenous iron therapy, but no head-to-head trials compared the effects of newer intravenous iron formulations on risks and mediators of hypophosphatemia.

Methods: In a randomized, double-blinded, controlled trial of adults with iron deficiency anemia from February 2016 to January 2017, we compared rates of hypophosphatemia in response to a single FDA-approved course of ferric carboxymaltose (n = 1,000) or ferumoxytol (n = 997). To investigate pathophysiological mediators of intravenous iron-induced hypophosphatemia, we nested within the parent trial a physiological substudy (ferric carboxymaltose, n = 98; ferumoxytol, n = 87) in which we measured fibroblast growth factor 23 (FGF23), calcitriol, and parathyroid hormone (PTH) at baseline and 1, 2, and 5 weeks later. Read More

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December 2018
2 Reads

SERPING1 mutation in a rare hereditary angioedema with skin blisters.

Ann Allergy Asthma Immunol 2018 Nov 30. Epub 2018 Nov 30.

Department of Biophysics, Universidade Federal de São Paulo, São Paulo, SP, Brazil.

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November 2018
1 Read

Spinal direct current stimulation (tsDCS) in hereditary spastic paraplegias (HSP): A sham-controlled crossover study.

J Spinal Cord Med 2018 Dec 3:1-8. Epub 2018 Dec 3.

d Neurology Unit , Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico , Milan , Italy.

Objective: Hereditary spastic paraplegia (HSP) represents a heterogeneous group of neurodegenerative diseases characterized by progressive spasticity and lower limb weakness. We assessed the effects of transcutaneous spinal direct current stimulation (tsDCS) in HSP.

Design: A double-blind, randomized, crossover and sham-controlled study. Read More

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December 2018

Genotype analysis and identification of novel mutations in a multicentre cohort of patients with hereditary factor X deficiency.

Blood Coagul Fibrinolysis 2018 Nov 29. Epub 2018 Nov 29.

St. George's Haemophilia Centre, St. George's University Hospitals NHS Foundation Trust, London, UK.

: The objective was to examine the genotypic and phenotypic characteristics of individuals with hereditary factor X deficiency (FXD), a rare autosomal recessive bleeding disorder caused by mutations in the F10 gene located on chromosome 13q34-ter. To date, 149 F10 mutations have been identified as contributory to FXD. Three open-label phase 3 trials enrolled individuals with mild, moderate, or severe FXD. Read More

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November 2018

The Study of rs693 and rs515135 in APOB in People with Familial Hypercholestrolemia.

Cell J 2019 Apr 18;21(1):86-91. Epub 2018 Nov 18.

Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran. Electronic

Objective: APOB-related familial hypercholesterolemia (FH) is the most common hereditary hyperchlosterolemia with an autosomal dominant pattern. A number of APOB variants are the most important risk factors for hyperchlosterolemia. APOB is a large glycoprotein that plays an important role in the metabolism of lipoproteins in the human body. Read More

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A novel EMD mutation in a Chinese family with initial diagnosis of conduction cardiomyopathy.

Brain Behav 2018 Dec 3:e01167. Epub 2018 Dec 3.

Department of Medical Genetics, The Second Xiangya Hospital, Central South University, Changsha, China.

Introduction: Emery-Dreifuss muscular dystrophy (EDMD) is a hereditary myopathy characterized as triad of muscular dystrophy, joint contractures, and conduction cardiomyopathy. In this study, we diagnosed a X-linked recessive EDMD patient with severe conduction cardiomyopathy while noteless muscular and joint disorders.

Methods: A Chinese cardiomyopathy family spanning four generations was enrolled in the study. Read More

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December 2018
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The effect of CYP4F2, VKORC1 and CYP2C9 in influencing coumarin dose. A single patient data meta-analysis in more than 15,000 individuals.

Clin Pharmacol Ther 2018 Dec 2. Epub 2018 Dec 2.

General Medicine and Hypertension Unit, Department of Medicine, University of Verona, Italy.

The CYP4F2 gene is known to influence mean coumarin dose. The aim of the present study was to undertake a meta-analysis at individual patients' level to capture the possible effect of ethnicity, gene-gene interaction or other drugs on the association and to verify if inclusion of CYP4F2*3 variant into dosing algorithms improves the prediction of mean coumarin dose. We asked the authors of our previous meta-analysis (30 articles) and of 38 new articles retrieved by a systematic review to send us individual patients' data. Read More

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December 2018
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Chronic granulamatous disease: two decades of experience from a pediatric immunology unit in a country with high rate of consangineous marriages.

Scand J Immunol 2018 Dec 1:e12737. Epub 2018 Dec 1.

Ege University, Faculty of Medicine, Department of Pediatric Immunology, Izmir, Turkey.

Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by susceptibility to bacterial and fungal infections resulting from the inadequacy of phagocytic leukocytes to produce reactive oxygen radicals. CGD is a genetically heterogeneous disease with an X-linked recessive (XR-CGD) form caused by mutations in the CYBB (OMIM #300481) gene encoding the gp91(phox) protein, and an autosomal recessive (AR-CGD) form caused by mutations in the CYBA (OMIM #608508), NCF1 (OMIM #608512), NCF2 (OMIM #608515) and NCF4 (OMIM #601488) genes encoding p22(phox), p47(phox), p67(phox), and p40(phox), respectively. The genetic mutation of one of the cytosolic p47phox/p67phox proteins and membrane-bound gp91phox/p22phox proteins, which constitutes the NADPH oxidase enzyme complex, causes the disease. Read More

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December 2018

Novel BRCA1 Large Genomic Rearrangements in Italian Breast/Ovarian Cancer Patients.

Mol Diagn Ther 2018 Dec 1. Epub 2018 Dec 1.

Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

Background: In recent years, the number of patients being offered BRCA1/2 testing has changed dramatically. Advances in high-throughput sequencing technology have led many diagnostic laboratories to test next-generation sequencing (NGS)-based platforms as the main technology for clinical testing. As a consequence, the proportion of novel BRCA1/2 variants detected has greatly increased. Read More

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December 2018
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Communication About Hereditary Cancers on Social Media: A Content Analysis of Tweets About Hereditary Breast and Ovarian Cancer and Lynch Syndrome.

J Cancer Educ 2018 Dec 3. Epub 2018 Dec 3.

Office of Public Health Genomics, Centers for Disease Control and Prevention, 1600 Clifton Road, Atlanta, GA, 30329, USA.

Social media is increasingly being used as an information source and tool for individuals and organizations to share resources and engage in conversations about health topics. Because the public tends to learn about health topics and genetics from online social media sources, it is imperative to understand the amount, type, and quality of information being shared. We performed a retrospective analysis of tweets related to hereditary breast and ovarian cancer (HBOC) and Lynch syndrome (LS) between January 1, 2017 and December 31, 2017. Read More

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December 2018

Common fetal hemoglobin variants in Lebanese patients bearing the codon 29 beta gene mutation associated with different thalassemia phenotypes.

Ann Hematol 2018 Nov 30. Epub 2018 Nov 30.

Department of Internal Medicine, American University of Beirut Medical Center, PO Box 11-0236, Beirut, 11072020, Lebanon.

Beta-thalassemia can present with a wide spectrum of phenotypes determined by the coinheritance of α-thalassemia, hereditary persistence of fetal hemoglobin, and polymorphic variants in the BCL11A, HMIP, and HBB clusters. The codon 29 (cd29) mutation in the beta gene has been associated with a broad diversity of thalassemia phenotypes, possibly through genetic modifiers determining the genotype-phenotype relationship. In this study, we evaluated the effect of 10 single nucleotide polymorphisms (SNPs) on β-thalassemia severity in a group of 21 Lebanese patients bearing the cd29 mutation. Read More

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November 2018

[Classification and pathophysiology of angioedema].

Hautarzt 2018 Nov 30. Epub 2018 Nov 30.

Klinik für Dermatologie, Venerologie und Allergologie, Charité - Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Deutschland.

Background: The classification of angioedema in daily clinical practice is often challenging.

Objectives: The goal is to review the most recent classification of angioedema and to discuss the underlying pathology.

Materials And Methods: Current guidelines and research on the pathophysiology and classification of angioedema were evaluated. Read More

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November 2018

Leber's hereditary optic neuropathy: Shifting our attention to the macula.

Am J Ophthalmol Case Rep 2019 Mar 13;13:13-15. Epub 2018 Nov 13.

Doheny Eye Institute, Los Angeles, CA, USA.

Purpose: Peripapillary vascular alterations have been classically described as hallmarks of Leber's Hereditary Optic Neuropathy (LHON). We recently demonstrated microvascular pathology involving the macula in patients affected with chronic LHON using optical coherence tomography angiography (OCTA). Macular vascular pathology in acute LHON has not previously been reported. Read More

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March 2019
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Differential expression of nuclear lamin subtypes in the neural cells of the adult rat cerebral cortex.

IBRO Rep 2018 Dec 5;5:99-109. Epub 2018 Nov 5.

Department of Anatomy and Cell Science, Kansai Medical University, Osaka, Japan.

Lamins are type V intermediate filament proteins that are located beneath the inner nuclear membrane. In mammalian somatic cells, LMNB1 and LMNB2 encode somatic lamins B1 and B2, respectively, and the LMNA gene is alternatively spliced to generate somatic lamins A and C. Mutations in lamin genes have been linked to many human hereditary diseases, including neurodegenerative disorders. Read More

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December 2018

Applying Two Different Bioinformatic Approaches to Discover Novel Genes Associated with Hereditary Hearing Loss via Whole-Exome Sequencing: ENDEAVOUR and HomozygosityMapper.

Adv Biomed Res 2018 31;7:141. Epub 2018 Oct 31.

Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.

Background: Hearing loss (HL) is a highly prevalent heterogeneous deficiency of sensory-neural system with involvement of several dozen genes. Whole-exome sequencing (WES) is capable of discovering known and novel genes involved with HL.

Materials And Methods: Two pedigrees with HL background from Khuzestan province of Iran were selected. Read More

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October 2018

The role of inheritance in the development of adolescent varicoceles.

Transl Androl Urol 2018 Dec;7(6):920-925

Smith Institute for Urology, Northwell Health, New Hyde Park, NY, USA.

Background: The prevalence of varicoceles is estimated to be 15% in the general population but is nearly 35% among men with primary infertility and increases by 10% with each decade of life. Studies among adults infer a higher rate of varicoceles among first-degree relatives of patients with varicoceles. However, these studies do not consider the presence of varicoceles, or other venous abnormalities, at the time of desired paternity in first-degree relatives of adolescent patients. Read More

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December 2018

Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels.

Genet Med 2018 Dec 3. Epub 2018 Dec 3.

Mayo Clinic, Rochester, MN, USA.

Purpose: Several genes on hereditary breast and ovarian cancer susceptibility test panels have not been systematically examined for strength of association with disease. We employed the Clinical Genome Resource (ClinGen) clinical validity framework to assess the strength of evidence between selected genes and breast or ovarian cancer.

Methods: Thirty-one genes offered on cancer panel testing were selected for evaluation. Read More

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December 2018
5 Reads

Recent Advances in Oligonucleotide-Based Therapy for Transthyretin Amyloidosis: Clinical Impact and Future Prospects.

Biol Pharm Bull 2018 ;41(12):1737-1744

Department of Pharmacy, Kumamoto University Hospital.

Transthyretin (TTR) amyloidosis, also known as transthyretin-related familial amyloidotic polyneuropathy (ATTR-FAP), is a fatal hereditary systemic amyloidosis caused by mutant forms of TTR. Although conventional treatments for ATTR-FAP, such as liver transplantation (LT) and TTR tetramer stabilizer, reportedly halt the progression of clinical manifestation, these therapies have several limitations. Oligonucleotide-based therapy, e. Read More

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January 2018

Distinct Clinical Courses of Epithelial Ovarian Cancer with Mutations in 5' and 3' Exons.

Anticancer Res 2018 Dec;38(12):6947-6953

Institute of Women's Life Medical Science, Women's Cancer Center, Department of Obstetrics and Gynecology, Yonsei University College of Medicine, Seoul, Republic of Korea

Background/aim: This study aimed to determine the effect of different BRCA1 exonal mutations on the clinical course of epithelial ovarian cancer (EOC).

Patients And Methods: Clinicopathological variables and survival outcomes were compared among 53 primary EOC patients with pathogenic BRCA1 mutations in exons 1-11 (5' mutations) and in exons 12-24 (3' mutations).

Results: BRCA1 5' exonal mutations were found in 35 (66. Read More

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December 2018

Chemotherapy in Patients with Hereditary Angioedema.

Anticancer Res 2018 Dec;38(12):6801-6807

Internal Medicine Department, Tor Vergata University Hospital, Medical Oncology Unit, Rome, Italy.

Background: Hereditary angioedema (HAE) is an autosomal dominant hereditary disorder characterized by episodic swelling of many body regions (especially throat and abdomen), potentially triggered by medication. No data are available for HAE in patients with cancer assigned to standard chemotherapy. The aim of our study was to identify circulating mediators potentially predictive of acute HAE attacks during chemotherapy. Read More

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December 2018
1 Read

Inherited hemolytic anemia: a possessive beginner's guide.

Authors:
Narla Mohandas

Hematology Am Soc Hematol Educ Program 2018 Nov;2018(1):377-381

New York Blood Center, New York, NY.

Significant advances have been made in diagnosis and clinical management of inherited red cell membrane disorders that result in hemolytic anemia. Membrane structural defects lead to hereditary spherocytosis (HS) and hereditary elliptocytosis (HE), whereas altered membrane transport function accounts for hereditary xerocytosis (HX) and hereditary overhydrated stomatocytosis (OHS). The degrees of membrane loss and resultant increases in cell sphericity determine the severity of anemia in HS and HE, and splenectomy leads to amelioration of anemia by increasing the circulatory red cell life span. Read More

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November 2018

Structural progression of amyloid-β Arctic mutant aggregation in cells revealed by multi-parametric imaging.

J Biol Chem 2018 Nov 30. Epub 2018 Nov 30.

Chemical Engineering and Biotechnology, University of Cambridge, United Kingdom.

The 42-amino-acid amyloid-β (Aβ42) is a critical causative agent in the pathology of Alzheimer's disease. The hereditary Arctic mutation of Aβ42 (E22G) leads to increased intracellular accumulation of amyloid-β in early-onset AD. However, it remains largely unknown how the Arctic mutant variant leads to aggressive protein aggregation and increased intracellular toxicity. Read More

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November 2018

TDRKH is a candidate gene for an autosomal dominant distal hereditary motor neuropathy.

Eur J Med Genet 2018 Nov 29. Epub 2018 Nov 29.

Division of Genomics, Medical Institute of Bioregulation, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan.

Distal hereditary motor neuropathies (dHMNs) comprise a group of clinically and genetically heterogeneous inherited lower motor neuron syndromes mainly characterized by a distal-predominant pattern of progressive muscle atrophy, weakness and hyporeflexia, without sensory dysfunction. Although at least 21 causative genes for dHMN have been reported, mutational scanning of these genes often fails to identify the causative variants in dHMN cohorts, suggesting that additional causative genes remain to be identified. We studied a four-generation pedigree of a Japanese family with autosomal dominant dHMN to provide insight into the pathogenetic basis of the disease. Read More

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November 2018
1 Read

Total knee arthroplasty in a patient with nail-patella syndrome (NPS).

Knee 2018 Nov 29. Epub 2018 Nov 29.

Houston Methodist Othopedics & Sports Medicine, Houston, TX, United States of America. Electronic address:

Nail-patella syndrome (NPS) or hereditary onycho-osteodyaplasia is a rare genetic condition involving a mutation in the LMX1B gene affecting nails, elbows, knees, and pelvis. Due to the regulatory functions of the gene in many developmental processes through the body, patients with NPS experience wide-ranging musculoskeletal problems including patellar instability, fingernail anomalies, iliac exostoses/horns, and elbow abnormalities. The patellar changes often involve aplasia, hypoplasia, and chronic dislocation. Read More

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November 2018
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Nano- and microscale mechanical properties of erythrocytes in hereditary spherocytosis.

J Biomech 2018 Nov 16. Epub 2018 Nov 16.

Research Institute for Applied Problems of Mathematics and Informatics, Belarusian State University, Nezavisimosti Ave., 4, 220030 Minsk, Belarus.

Hereditary spherocytosis (HS), an erythrocyte membranopathy, is a heterogeneous disease, even at the level of the erythrocyte population. The paper aims at studying the mechanical properties (the Young's modulus, median and RMS roughness of friction force maps; fractal dimension, lacunarity and spatial distribution parameters of lateral force maps) of the cell surface layer of the erythrocytes of two different morphologies (discocytes and spherocytes) in HS using atomic force microscopy. The results of spatial-spectral and fractal analysis showed that the mechanical property maps of the HS spherocyte surface were more structurally homogeneous compared to the maps of HS discocytes. Read More

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November 2018

Medical management of haemorrhagic hereditary telangiectasia in adult patients.

Med Clin (Barc) 2018 Nov 27. Epub 2018 Nov 27.

Unidad de Telangiectasia Hemorrágica Hereditaria, Hospital Universitari de Bellvitge-IDIBELL, L'Hospitalet de LLobregat, Barcelona, España; Facultad de Medicina y Ciencias de la Salud, Universitat de Barcelona, Barcelona, España; Unidad de Hepatología y Trasplante hepático, Servicio de Aparato Digestivo, Hospital Universitari de Bellvitge-IDIBELL, L'Hospitalet de LLobregat, Barcelona, España.

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant inherited Rare Disease that causes a systemic anomalous vascular overgrowth. The approach and follow-up of these patients should be from multidisciplinary units. Its diagnosis is carried out according to Curaçao clinical Criteria. Read More

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November 2018

[Application of High Resolution Melting Curve Analysis in Detection of SLC4A1 Gene Mutation in Patients with Hereditary Spherocytosis].

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2018 Dec;26(6):1826-1830

Department of Laboratorial Medicine, The First Affiliated Hospital of Guangxi Medical University Nanning 530021, Guangxi Zhuang Autonomous Region, China,E-mail:

Objective: To investigate the feasibility and clinical significance of high resolution melting(HRM) curve analysis to detect SLC4A1 gene D38A and K56E mutations in the patients with hereditary spherocytosis(HS).

Methods: Peripheral blood was collected from 23 cases of HS for routine tests and their genomic DNA was extracted by routine technique. Specific primers of mutation sites D38A and K56E of SLC4A1 gene were designed. Read More

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December 2018

Charcot Marie Tooth Disease. A Single Disorder?

Authors:
Michel Fontés

Int J Mol Sci 2018 Nov 29;19(12). Epub 2018 Nov 29.

C2VN, AIX Marseille Université, INRA 1260-INSERM 1263, 13007 Marseille, France.

Peripheral neuropathies are subdivided into acquired and hereditary transmitted disorders. [.. Read More

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November 2018

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.

J Natl Cancer Inst 2018 Dec 4. Epub 2018 Dec 4.

QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.

Background: The BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome (BAP1-TPDS) is a hereditary tumor syndrome caused by germline pathogenic variants in BAP1 encoding a tumor suppressor associated with uveal melanoma, mesothelioma, cutaneous melanoma, renal cell carcinoma, and cutaneous BAP1-inactivated melanocytic tumors. However, the full spectrum of tumors associated with the syndrome is yet to be determined. Improved understanding of the BAP1-TPDS is crucial for appropriate clinical management of BAP1 germline variant carriers and their families, including genetic counseling and surveillance for new tumors. Read More

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December 2018
2 Reads

Treatment strategies for Leber hereditary optic neuropathy.

Curr Opin Neurol 2018 Nov 30. Epub 2018 Nov 30.

NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology.

Purpose Of Review: Leber hereditary optic neuropathy (LHON) is the most common primary mitochondrial DNA (mtDNA) disorder in the population and it carries a poor visual prognosis. In this article, we review the development of treatment strategies for LHON, the evidence base and the areas of unmet clinical need.

Recent Findings: There is accumulating evidence that increasing mitochondrial biogenesis could be an effective strategy for protecting retinal ganglion cells in LHON. Read More

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November 2018
1 Read

Tumor risk and surveillance for children with hereditary disorders affecting growth.

Curr Opin Endocrinol Diabetes Obes 2018 Dec 3. Epub 2018 Dec 3.

Division of Endocrinology, The Hospital for Sick Children.

Purpose Of Review: Hereditary disorders affecting growth (both overgrowth and growth retardation) are frequently associated with heightened risk of neoplastic disease. This review summarizes the tumor spectra associated with these conditions and identifies disease-specific screening approaches.

Recent Findings: An understanding of the molecular events underlying many of these growth disorders has evolved significantly over the past several years. Read More

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December 2018
1 Read

A clinically structured and partnered approach to genetic testing in Trinidadian women with breast cancer and their families.

Breast Cancer Res Treat 2018 Dec 4. Epub 2018 Dec 4.

Sylvester Comprehensive Cancer Center, Miami, FL, USA.

Introduction: Breast cancer (BC) is the leading cause of cancer death in Caribbean women. Across the Caribbean islands, the prevalence of hereditary breast cancer among unselected breast cancer patients ranges from 5 to 25%. Moreover, the prevalence of BC among younger women and the high mortality in the Caribbean region are notable. Read More

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December 2018

Clinical implications of CTNNA1 germline mutations in asymptomatic carriers.

Gastric Cancer 2018 Dec 4. Epub 2018 Dec 4.

Laboratoire d'Oncogénétique, Unité fonctionnelle d'Oncogénétique, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière AP-HP, 75013, Paris, France.

In 2017, we implemented CTNNA1 germline analysis in probands suspected of having hereditary diffuse gastric cancer. Here, we report the results from a retrospective series of 41 cases, including the identification of a new family with a CTNNA1 mutation and the first prophylactic total gastrectomy in an asymptomatic carrier after a normal upper endoscopy. Diffuse gastric cancer foci with loss of catenin alpha-1 expression were seen in the resected tissue, suggesting that CTNNA1 and CDH1 germline mutations behave in a similar manner. Read More

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December 2018
2 Reads

Regulated proteolysis of p62/SQSTM1 enables differential control of autophagy and nutrient sensing.

Sci Signal 2018 Dec 4;11(559). Epub 2018 Dec 4.

Section of Microbiology, Medical Research Council Centre for Molecular Bacteriology and Infection, Imperial College London, London SW7 2AZ, UK.

The multidomain scaffold protein p62 (also called sequestosome-1) is involved in autophagy, antimicrobial immunity, and oncogenesis. Mutations in , which encodes p62, are linked to hereditary inflammatory conditions such as Paget's disease of the bone, frontotemporal dementia (FTD), amyotrophic lateral sclerosis, and distal myopathy with rimmed vacuoles. Here, we report that p62 was proteolytically trimmed by the protease caspase-8 into a stable protein, which we called p62 We found that p62, but not full-length p62, was involved in nutrient sensing and homeostasis through the mechanistic target of rapamycin complex 1 (mTORC1). Read More

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December 2018

Quantification of liver iron overload disease with laser ablation inductively coupled plasma mass spectrometry.

BMC Med Imaging 2018 Dec 4;18(1):51. Epub 2018 Dec 4.

Institute of Molecular Pathobiochemistry, Experimental Gene Therapy and Clinical Chemistry (IFMPEGKC), RWTH University Hospital Aachen, Pauwelsstr 30, D-52074, Aachen, Germany.

Background: Hereditary hemochromatosis is the most frequent, identified, genetic disorder in Caucasians affecting about 1 in 1000 people of Northern European ancestry, where the associated genetic defect (homozygosity for the p.Cys282Tyr polymorphism in the HFE gene) has a prevalence of approximately 1:200. The disorder is characterized by excess iron stores in the body. Read More

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December 2018

The Autosomal Dominant Inheritance of Hereditary Gingival Fibromatosis: A Case Report.

N Y State Dent J 2016 Nov;82(6):43-46

Hereditary gingival fibromatosis (HGF) is a rare disorder characterized by progressive and varying degrees of gingival overgrowth. Oral manifestations vary from minimal to generalized enlargement, and HGF may occur as an isolated disorder or a feature of a syndrome. Unaesthetic appearance and functional impairment due to excessive gingival tissue dictate the need for surgical intervention. Read More

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November 2016

Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe.

Am J Med Genet A 2018 Dec 4. Epub 2018 Dec 4.

The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.

Whole exome sequencing (WES) has become routine in clinical practice, especially in studies of recessive hereditary diseases in inbred consanguineous families, where homozygosity of a founder mutation is assumed. Multiple members of two consanguineous families of a single Bedouin tribe were diagnosed with apparently autosomal recessive/pseudo-dominant retinitis pigmentosa (RP). Affected individuals exhibited severe visual impairment with nyctalopia, marked constriction of visual fields, markedly reduced and delayed responses on electro-retinography (ERG) and eventual loss of central vision. Read More

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December 2018
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Decreased Levels of MicroRNAs-28-5p, -361-3p and Increased Insulin-Like Growth Factor 1 mRNA Levels in Mononuclear Cells from Hereditary Hemorrhagic Telangiectasia Patients.

Can J Physiol Pharmacol 2018 Dec 4. Epub 2018 Dec 4.

St. Michael's Hospital, Cardiology , 30 Bond Street , Toronto, Ontario, Ontario, Canada , M5B 1W8 ;

Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disorder inherited in an autosomal dominant manner. Patients with HHT can develop vascular dysplasias called telangiectasias and arteriovenous malformations (AVMs). Our objective was to profile and characterize microRNAs (miRs), short-noncoding RNAs that regulate gene expression post-transcriptionally, in HHT patient derived peripheral blood mononuclear cells (PBMCs). Read More

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December 2018

[Progress in genetic research on cognitive function of attention deficit hyperactivity disorder].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Dec;35(6):912-915

Nanjing Brain Hospital, Affiliated to Nanjing Medical University, Nanjing, Jiangsu 210029, China.

Attention deficit hyperactivity disorder (ADHD) is a form of neuronal dysplasia featuring high hereditary (up to 76%). This paper reviews recent progress made in genetic research on the cognitive function in ADHD. Two aspects of cognitive function were explored from the perspective of genetics, including intelligence and executive function. Read More

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December 2018