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inherited mutation

David S Wald, Jonathan P Bestwick, Joan K Morris, Ken Whyte, Lucy Jenkins, Nicholas J Wald
Background Child-parent screening for familial hypercholesterolemia has been proposed to identify persons at high risk for inherited premature cardiovascular disease. We assessed the efficacy and feasibility of such screening in primary care practice. Methods We obtained capillary blood samples to measure cholesterol levels and to test for familial hypercholesterolemia mutations in 10,095 children 1 to 2 years of age during routine immunization visits. Children were considered to have positive screening results for familial hypercholesterolemia if their cholesterol level was elevated and they had either a familial hypercholesterolemia mutation or a repeat elevated cholesterol level 3 months later...
October 27, 2016: New England Journal of Medicine
Francis B Panosyan, Rabi Tawil, David N Herrmann
INTRODUCTION: Episodic muscle weakness is the hallmark of a heterogeneous group of disorders known as periodic paralysis. A majority are due to single nucleotide mutations causing membrane depolarization. METHODS: We report 2 family members with chronic, slowly progressive, distal axonal neuropathy or Charcot-Marie-Tooth disease type 2 (CMT2) and episodic weakness resembling periodic paralysis. RESULTS: Next generation sequencing (NGS) identified a mitochondrial MT-ATP6 mutation m...
October 26, 2016: Muscle & Nerve
Meiling Jin, Yuansheng Xie, Zhiqiang Chen, Yujie Liao, Zuoxiang Li, Panpan Hu, Yan Qi, Zhiwei Yin, Qinggang Li, Ping Fu, Xiangmei Chen
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder mainly caused by mutation in PKD1/PKD2. However, ethnic differences in mutations, the association between mutation genotype/clinical phenotype, and the clinical applicable value of mutation detection are poorly understood. We made systematically analysis of Chinese ADPKD patients based on a next-generation sequencing platform. Among 148 ADPKD patients enrolled, 108 mutations were detected in 127 patients (85.8%)...
October 26, 2016: Scientific Reports
Yoichi Iwafuchi, Tetsuo Morioka, Yuko Oyama, Kandai Nozu, Kazumoto Iijima, Ichiei Narita
Many types of inherited renal diseases have ocular features that occasionally support a diagnosis. The following study describes an unusual example of a 40-year-old woman with granular corneal dystrophy type II complicated by renal involvement. These two conditions may coincidentally coexist; however, there are some reports that demonstrate an association between renal involvement and granular corneal dystrophy type II. Granular corneal dystrophy type II is caused by a mutation in the transforming growth factor-β-induced (TGFBI) gene...
September 2016: Case Reports in Nephrology and Dialysis
Steffen Syrbe, Boris S Zhorov, Astrid Bertsche, Matthias K Bernhard, Frauke Hornemann, Ulrike Mütze, Jessica Hoffmann, Konstanze Hörtnagel, Wieland Kiess, Franz W Hirsch, Johannes R Lemke, Andreas Merkenschlager
Mutations in SCN2A have been associated with benign familial neonatal-infantile seizures (BFNIS) as well as infantile-onset epileptic encephalopathy, such as Ohtahara syndrome (OS). We describe a family with 3 affected individuals carrying the novel SCN2A missense variant c.1147C>G, p.Q383E affecting a residue proximal to the highly conserved selectivity filter in the P-loop of the voltage-gated sodium channel (Nav1.2). All 3 individuals presented with seizures in early infancy. However, there were striking differences in the spectrum of clinical presentations, ranging from BFNIS to OS...
September 2016: Molecular Syndromology
Viney Gupta, Bindu I Somarajan, Shikha Gupta, Abadh Kishore Chaurasia, Sandip Kumar, Paromita Dutta, Vipin Gupta, Arundhati Sharma, Bamidele O Tayo, Ken Nischal
Juvenile onset open angle glaucoma affects patients before 40years of age, who present with high intraocular pressure and deep steep cupping of the optic nerve head. While it was considered to be inherited in an autosomal dominant fashion, recent studies have shown an autosomal recessive pattern as well as sporadic occurrence of the disease in several families. In this review, we analyze the genetic basis of the disease along with common mutations and their association with JOAG. We also analyzed the inheritance patterns in a large group of unrelated JOAG patients (n = 336) from Northern India wherein the prevalence of familial occurrence was assessed and segregation analysis performed, to determine the mode of inheritance...
October 25, 2016: Clinical Genetics
Han-Shi Zeng, Wei-Xia Lin, Shu-Tao Zhao, Zhan-Hui Zhang, Heng-Wen Yang, Feng-Ping Chen, Yuan-Zong Song, Zhi-Nan Yin
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disorder resulting from biallelic mutations of the SLC25A13 gene. Due to the lack of well‑recognized clinical or biochemical diagnostic criteria, the definitive diagnosis of this disease relies on the genetic analysis of SLC25A13 at present. As novel large deletion/insertion mutations of the SLC25A13 gene are difficult to detect using routine DNA analytic approaches, the timely diagnosis of patients with these types of mutations remains a challenge...
October 21, 2016: Molecular Medicine Reports
Nikolaus Rieber, Roel P Gazendam, Alexandra F Freeman, Amy P Hsu, Amanda L Collar, Janyce A Sugui, Rebecca A Drummond, Chokechai Rongkavilit, Kevin Hoffman, Carolyn Henderson, Lily Clark, Markus Mezger, Muthulekha Swamydas, Maik Engeholm, Rebecca Schüle, Bettina Neumayer, Frank Ebel, Constantinos M Mikelis, Stefania Pittaluga, Vinod K Prasad, Anurag Singh, Joshua D Milner, Kelli W Williams, Jean K Lim, Kyung J Kwon-Chung, Steven M Holland, Dominik Hartl, Taco W Kuijpers, Michail S Lionakis
Invasive pulmonary aspergillosis is a life-threatening mycosis that only affects patients with immunosuppression, chemotherapy-induced neutropenia, transplantation, or congenital immunodeficiency. We studied the clinical, genetic, histological, and immunological features of 2 unrelated patients without known immunodeficiency who developed extrapulmonary invasive aspergillosis at the ages of 8 and 18. One patient died at age 12 with progressive intra-abdominal aspergillosis. The other patient had presented with intra-abdominal candidiasis at age 9, and developed central nervous system aspergillosis at age 18 and intra-abdominal aspergillosis at age 25...
October 20, 2016: JCI Insight
Toshifumi Fujiwara, Shiqiao Ye, Thiago Castro-Gomes, Caylin G Winchell, Norma W Andrews, Daniel E Voth, Kottayil I Varughese, Samuel G Mackintosh, Yunfeng Feng, Nathan Pavlos, Takashi Nakamura, Stavros C Manolagas, Haibo Zhao
Mutations of the Plekhm1 gene in humans and rats cause osteopetrosis, an inherited bone disease characterized by diminished bone resorption by osteoclasts. PLEKHM1 binds to RAB7 and is critical for lysosome trafficking. However, the molecular mechanisms by which PLEKHM1 regulates lysosomal pathways remain unknown. Here, we generated germline and conditional Plekhm1-deficient mice. These mice displayed no overt abnormalities in major organs, except for an increase in trabecular bone mass. Furthermore, loss of PLEKHM1 abrogated the peripheral distribution of lysosomes and bone resorption in osteoclasts...
October 20, 2016: JCI Insight
Ja Hyang Cho, Eungu Kang, Gu-Hwan Kim, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo
Vitamin D hydroxylation-deficient rickets type 1A (VDDR1A) is an autosomal recessively-inherited disorder caused by mutations in CYP27B1 encoding the 1α-hydroxylase enzyme. We report on a female patient with VDDR1A who presented with hypocalcemic seizure at the age of 13 months. The typical clinical and biochemical features of VDDR1A were found, such as hypocalcemia, increased alkaline phosphatase, secondary hyperparathyroidism and normal 25-hydroxyvitamin D3 (25(OH)D3). Radiographic images of the wrist showed metaphyseal widening with cupping and fraying of the ulna and distal radius, suggesting rickets...
September 2016: Annals of Pediatric Endocrinology & Metabolism
Gabriella de M Abreu, Débora Cristina T Valença, Mário Campos, Camilla P da Silva, João S Pereira, Marco A Araujo Leite, Ana Lucia Rosso, Denise H Nicaretta, Luiz Felipe R Vasconcellos, Delson José da Silva, Marcus V Della Coletta, Jussara M Dos Santos, Andressa P Gonçalves, Cíntia B Santos-Rebouças, Márcia M G Pimentel
INTRODUCTION: Amongst Parkinson's disease (PD) genetic factors, mutations in LRRK2, SNCA, VPS35 and GBA genes are recognized causes of PD. Nonetheless, few genetic screenings have been conducted in families with a history of PD consistent with autosomal dominant inheritance (ADPD), and their relevance to the etiology of PD has been poorly explored in Latin American populations, such as the Brazilian one, with a high degree of admixture. METHODS: In order to assess the contribution of specific mutations in LRRK2, SNCA, VPS35 and GBA genes to ADPD in Brazil, we conducted the first molecular evaluation in a cohort of 141 index cases from families with ADPD...
October 21, 2016: Neuroscience Letters
Natalie S Ryan, Jennifer M Nicholas, Philip S J Weston, Yuying Liang, Tammaryn Lashley, Rita Guerreiro, Gary Adamson, Janna Kenny, Jon Beck, Lucia Chavez-Gutierrez, Bart de Strooper, Tamas Revesz, Janice Holton, Simon Mead, Martin N Rossor, Nick C Fox
BACKGROUND: The causes of phenotypic heterogeneity in familial Alzheimer's disease with autosomal dominant inheritance are not well understood. We aimed to characterise clinical phenotypes and genetic associations with APP and PSEN1 mutations in symptomatic autosomal dominant familial Alzheimer's disease (ADAD). METHODS: We retrospectively analysed genotypic and phenotypic data (age at symptom onset, initial cognitive or behavioural symptoms, and presence of myoclonus, seizures, pyramidal signs, extrapyramidal signs, and cerebellar signs) from all individuals with ADAD due to APP or PSEN1 mutations seen at the Dementia Research Centre in London, UK...
October 21, 2016: Lancet Neurology
Mengxuan Tang, Davis C Ryman, Eric McDade, Mateusz S Jasielec, Virginia D Buckles, Nigel J Cairns, Anne M Fagan, Alison Goate, Daniel S Marcus, Chengjie Xiong, Ricardo F Allegri, Jasmeer P Chhatwal, Adrian Danek, Martin R Farlow, Nick C Fox, Bernardino Ghetti, Neill R Graff-Radford, Christopher Laske, Ralph N Martins, Colin L Masters, Richard P Mayeux, John M Ringman, Martin N Rossor, Stephen P Salloway, Peter R Schofield, John C Morris, Randall J Bateman
BACKGROUND: Autosomal dominant familial Alzheimer's disease (ADAD) is a rare disorder with non-amnestic neurological symptoms in some clinical presentations. We aimed to compile and compare data from symptomatic participants in the Dominantly Inherited Alzheimer Network observational study (DIAN-OBS) with those reported in the literature to estimate the prevalences of non-amnestic neurological symptoms in participants with ADAD. METHODS: We prospectively collected data from the DIAN-OBS database, which recruited participants from study centres in the USA, Europe, and Australia, between Feb 29, 2008, and July 1, 2014...
October 21, 2016: Lancet Neurology
Kenichi Masumura, Naomi Toyoda-Hokaiwado, Akiko Ukai, Yoichi Gondo, Masamitsu Honma, Takehiko Nohmi
Germline mutations are an important component of genetic toxicology; however, mutagenicity tests of germline cells are limited. Recent advances in sequencing technology can be used to detect mutations by direct sequencing of genomic DNA (gDNA). We previously reported induced de novo mutations detected using whole-exome sequencing in the offspring of N-ethyl-N-nitrosourea (ENU)-treated mice in a single-dose experiment (85mg/kg, i.p., weekly on two occasions). In this study, two lower doses (10 and 30mg/kg) were added, and dose-response of inherited germline mutations was analyzed...
November 1, 2016: Mutation Research
Gráinne S Gorman, Patrick F Chinnery, Salvatore DiMauro, Michio Hirano, Yasutoshi Koga, Robert McFarland, Anu Suomalainen, David R Thorburn, Massimo Zeviani, Douglass M Turnbull
Mitochondrial diseases are a group of genetic disorders that are characterized by defects in oxidative phosphorylation and caused by mutations in genes in the nuclear DNA (nDNA) and mitochondrial DNA (mtDNA) that encode structural mitochondrial proteins or proteins involved in mitochondrial function. Mitochondrial diseases are the most common group of inherited metabolic disorders and are among the most common forms of inherited neurological disorders. One of the challenges of mitochondrial diseases is the marked clinical variation seen in patients, which can delay diagnosis...
October 20, 2016: Nature Reviews. Disease Primers
Anastasios Anyfantakis, Dimitrios Anyfantakis, Irene Vourliotaki
Resistance to thyroid hormone (RTH) is an extremely rare dominantly inherited condition of impaired tissue responsiveness to thyroid hormone (TH). Most patients with RTH have mutations in the gene that encodes the β isoform of the receptor of thyroid hormone (THR-β gene). Mutant receptors are unable to activate or repress target genes. The majority of them are asymptomatic or rarely have hypo- or hyperthyroidism. RTH is suspected by the finding of persistent elevation of serum levels of free T3 (FT3) and free T4 (FT4) and nonsuppressed TSH...
2016: Case Reports in Endocrinology
Stuti Joshi, Wayne Yau, Allan Kermode
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small vessel disease, manifesting as recurrent ischaemic events, migraine with aura, behavioural disturbance and cognitive decline. We report two patients with CADASIL masquerading as multiple sclerosis (MS). A 23year old female presented with a visual scotoma and was discovered to have a corresponding retinal cotton wool spot. MRI brain revealed diffuse T2 hyperintensities suggestive of demyelination...
October 20, 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
S Micheletti, F Palestra, P Martelli, P Accorsi, J Galli, L Giordano, V Trebeschi, E Fazzi
BACKGROUND: Angelman Syndrome (AS) is a rare neurodevelopment disorder resulting from deficient expression or function of the maternally inherited allele of UBE3A gene. The aim of the study is to attempt at providing a detailed definition of neurodevelopmental profile in AS, with particular regard to motor, cognitive, communicative, behavioural and neurovisual, features by using standardized instruments. METHOD: A total of ten subjects aged from 5 to 11 years (4 males and 6 females) with molecular confirmed diagnosis of AS (7 15q11...
October 21, 2016: Italian Journal of Pediatrics
Renee Y M Leduc, Parmveer Singh, Heather E McDermid
Neurulation, the early embryonic process of forming the presumptive brain and spinal cord, is highly complex and involves hundreds of genes in multiple genetic pathways. Mice have long served as a genetic model for studying human neurulation, and the resulting neural tube defects (NTDs) that arise when neurulation is disrupted. Because mice appear to show mostly single gene inheritance for NTDs and humans show multifactorial inheritance, mice sometimes have been characterized as a simpler model for the identification and study of NTD genes...
October 21, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
Benoîte Bourdin, Emilie Segura, Marie-Philippe Tétreault, Sylvie Lesage, Lucie Parent
Inherited or de novo mutations in cation-selective channels may lead to sudden cardiac death. Alteration in the plasma membrane trafficking of these multi-spanning transmembrane proteins, with or without change in channel gating, is often postulated to contribute significantly in this process. It has thus become critical to develop a method to quantify the change of the relative cell surface expression of cardiac ion channels on a large scale. Herein, a detailed protocol is provided to determine the relative total and cell surface expression of cardiac L-type calcium channels CaV1...
September 28, 2016: Journal of Visualized Experiments: JoVE
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