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distal Arthrogryposis

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https://www.readbyqxmd.com/read/27844033/novel-nalcn-variant-altered-respiratory-and-circadian-rhythm-anesthetic-sensitivity
#1
Bernarda Lozic, Stefan Johansson, Sanja Lovric Kojundzic, Josko Markic, Per Morten Knappskog, Angelika F Hahn, Helge Boman
The sodium leak channel, a Na(+)-permeable, nonselective cation channel, is widely expressed in the nervous system, contributing a basal Na(+)-leak conductance and regulating neuronal excitability. A 3-year-old girl, heterozygous for a de novo missense mutation in NALCN (c.956C>T; p.Ala319Val) predicted to be deleterious, presented from birth with: stimulus-induced, episodic contractures of the limbs and face with associated respiratory distress; distal arthrogryposis; severe axial hypotonia; and severe global developmental delay (CLIFAHDD syndrome)...
November 2016: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/27843126/biallelic-loss-of-proprioception-related-piezo2-causes-muscular-atrophy-with-perinatal-respiratory-distress-arthrogryposis-and-scoliosis
#2
Andrea Delle Vedove, Markus Storbeck, Raoul Heller, Irmgard Hölker, Malavika Hebbar, Anju Shukla, Olafur Magnusson, Sebahattin Cirak, Katta M Girisha, Mary O'Driscoll, Bart Loeys, Brunhilde Wirth
We report ten individuals of four independent consanguineous families from Turkey, India, Libya, and Pakistan with a variable clinical phenotype that comprises arthrogryposis, spontaneously resolving respiratory insufficiency at birth, muscular atrophy predominantly of the distal lower limbs, scoliosis, and mild distal sensory involvement. Using whole-exome sequencing, SNPchip-based linkage analysis, DNA microarray, and Sanger sequencing, we identified three independent homozygous frameshift mutations and a homozygous deletion of two exons in PIEZO2 that segregated in all affected individuals of the respective family...
November 3, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27790376/distal-arthrogryposis-with-variable-clinical-expression-caused-by-tnni2-mutation
#3
Vida Čulić, Noriko Miyake, Sunčana Janković, Davor Petrović, Marko Šimunović, Tomislav Đapić, Masaaki Shiina, Kazuhiro Ogata, Naomichi Matsumoto
Distal arthrogryposis (DA) is a clinically and genetically heterogeneous disorder with multiple joint contractures. We describe a female DA patient with hand and foot deformities, and right-sided torticollis. Using exome sequencing, we identified a novel TNNI2 mutation (c.485>A, p.Arg162Lys) in the patient and her father. The father has no typical DA but hip dysplasia. This may explain the clinical features of DA2B in this family, but with variable clinical expression.
2016: Human Genome Variation
https://www.readbyqxmd.com/read/27782104/homozygous-syne1-mutation-causes-congenital-onset-of-muscular-weakness-with-distal-arthrogryposis-a-genotype-phenotype-correlation
#4
Matthias Baumann, Elisabeth Steichen-Gersdorf, Birgit Krabichler, Britt-Sabina Petersen, Ulrike Weber, Wolfgang M Schmidt, Johannes Zschocke, Thomas Müller, Reginald E Bittner, Andreas R Janecke
The exceptionally large SYNE1 (spectrin repeat-containing nuclear envelope protein 1) gene encodes different nesprin-1 isoforms, which are differentially expressed in striated muscle and in cerebellar and cerebral neurons. Nesprin-1 isoforms can function in cytoskeletal, nuclear, and vesicle anchoring. SYNE1 variants have been associated with a spectrum of neurological and neuromuscular disease. Homozygosity mapping combined with exome sequencing identified a disease-causing nonsense mutation in the ultimate exon of full-length SYNE1 transcript in an 8-year-old boy with distal arthrogryposis and muscular hypotonia...
October 26, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27726070/a-novel-tpm2-gene-splice-site-mutation-causes-severe-congenital-myopathy-with-arthrogryposis-and-dysmorphic-features
#5
Magdalena Mroczek, Dagmara Kabzińska, Krystyna H Chrzanowska, Maciej Pronicki, Andrzej Kochański
To date, only two splice-site mutations within the TPM2 gene have been shown to be causative for congenital myopathies. While the majority of TPM2 gene mutations are causative for nemaline myopathy, cap disease or distal arthrogryposis, some mutations in this gene have been found to be associated with non-specific congenital myopathy. We report on a patient with such an unspecified congenital myopathy associated with distinctive facial dysmorphic features and distal arthrogryposis. Using the whole exome sequencing (WES) approach we were able to identify a novel heterozygous splice-site mutation within the TPM2 gene, showing the utility of WES in molecular diagnostics of congenital myopathies without recognizable morphological hallmarks...
October 10, 2016: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27714920/familial-gordon-syndrome-associated-with-a-piezo2-mutation
#6
Franz Alisch, Alexander Weichert, Karim Kalache, Viola Paradiso, Ann Carolin Longardt, Christof Dame, Katrin Hoffmann, Denise Horn
Gordon syndrome or distal arthrogryposis type 3 is a rare autosomal dominant disorder characterized by contractures of upper and lower limbs. It is distinguishable from other forms of distal arthrogryposis by cleft palate and short stature. Recently, Gordon syndrome has been associated to heterozygous mutations in the piezo-type mechanosensitive ion channel component 2 gene (PIEZO2). Different mutations of this gene also cause distal arthrogryposis type 5 and Marden-Walker syndrome. Dysfunction of this ion channel provides pleiotropic effects on joints, ocular muscles, and bone development...
October 7, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27683561/mybpc1-an-emerging-myopathic-gene-what-we-know-and-what-we-need-to-learn
#7
REVIEW
Janelle Geist, Aikaterini Kontrogianni-Konstantopoulos
Myosin Binding Protein-C (MyBP-C) comprises a family of accessory proteins that includes the cardiac, slow skeletal, and fast skeletal isoforms. The three isoforms share structural and sequence homology, and localize at the C-zone of the sarcomeric A-band where they interact with thick and thin filaments to regulate the cycling of actomyosin crossbridges. The cardiac isoform, encoded by MYBPC3, has been extensively studied over the last several decades due to its high mutational rate in congenital hypertrophic and dilated cardiomyopathy...
2016: Frontiers in Physiology
https://www.readbyqxmd.com/read/27677018/arthrogryposis-multiplex-congenita-in-an-adult-patient-cohort-what-are-the-limitations-in-activities-in-daily-life
#8
Shenhao Dai, Marie Jaeger, Pierre Simon Jouk, Dominic Pérennou, Klaus Dieterich
OBJECTIVE: Arthrogryposis multiplex congenita (AMC) is a clinical diagnosis characterized by the presence of at least two joint contractures at birth. Causes of AMC are numerous involving CNS, neuromuscular system, connective and bone tissue. This study is the first to describe disability patterns of a cohort of adults with AMC. MATERIALS/PATIENTS AND METHODS: Thirty-nine patients (age 33.8±11.5 years; 23 females) underwent between 2010 and 2016 a 4 day evaluation in the PMR ward during the multidisciplinary consultations for AMC at the Reference Centre of Congenital Anomalies in Grenoble: 25 with amyoplasia, 8 with distal arthrogryposis (DA), and 6 with other atypical diseases...
September 2016: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/27607563/loss-of-the-proprioception-and-touch-sensation-channel-piezo2-in-siblings-with-a-progressive-form-of-contractures
#9
A A Mahmud, N A Nahid, C Nassif, M S B Sayeed, M U Ahmed, M Parveen, M I Khalil, M M Islam, Z Nahar, F Rypens, F F Hamdan, G A Rouleau, A Hasnat, J L Michaud
Dominant mutations in PIEZO2, which codes for the principal mechanotransduction channel for proprioception and touch sensation, have been found to cause different forms of distal arthrogryposis. Some observations suggest that these dominant mutations induce a gain-of-function effect on the channel. Here, we report a consanguineous family with three siblings who showed short stature, scoliosis, gross motor impairment, and a progressive form of contractures involving the distal joints that is distinct from that found in patients with dominant mutations in PIEZO2...
September 8, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27570397/spinal-muscular-atrophy-with-respiratory-distress-syndrome-smard1-case-report-and-review-of-literature
#10
Lokesh Lingappa, Nikit Shah, Ananth Sagar Motepalli, Farhan Shaik
Spinal muscular atrophy with respiratory distress syndrome (SMARD1) is a rare cause of early infantile respiratory failure and death. No cases have been currently described from India. Two low-birth-weight infants presented prior to 6 months of age with recurrent apnea and respiratory distress. Both required prolonged ventilation, and had distal arthrogryposis and diaphragmatic eventration. Nerve conduction study revealed motor sensory axonopathy. Genetic testing confirmed mutations in immunoglobulin mu binding protein (IGHMBP2)...
July 2016: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/27569547/impaired-presynaptic-high-affinity-choline-transporter-causes-a-congenital-myasthenic-syndrome-with-episodic-apnea
#11
Stéphanie Bauché, Seana O'Regan, Yoshiteru Azuma, Fanny Laffargue, Grace McMacken, Damien Sternberg, Guy Brochier, Céline Buon, Nassima Bouzidi, Ana Topf, Emmanuelle Lacène, Ganaelle Remerand, Anne-Marie Beaufrere, Céline Pebrel-Richard, Julien Thevenon, Salima El Chehadeh-Djebbar, Laurence Faivre, Yannis Duffourd, Federica Ricci, Tiziana Mongini, Chiara Fiorillo, Guja Astrea, Carmen Magdalena Burloiu, Niculina Butoianu, Carmen Sandu, Laurent Servais, Gisèle Bonne, Isabelle Nelson, Isabelle Desguerre, Marie-Christine Nougues, Benoit Bœuf, Norma Romero, Jocelyn Laporte, Anne Boland, Doris Lechner, Jean-François Deleuze, Bertrand Fontaine, Laure Strochlic, Hanns Lochmuller, Bruno Eymard, Michèle Mayer, Sophie Nicole
The neuromuscular junction (NMJ) is one of the best-studied cholinergic synapses. Inherited defects of peripheral neurotransmission result in congenital myasthenic syndromes (CMSs), a clinically and genetically heterogeneous group of rare diseases with fluctuating fatigable muscle weakness as the clinical hallmark. Whole-exome sequencing and Sanger sequencing in six unrelated families identified compound heterozygous and homozygous mutations in SLC5A7 encoding the presynaptic sodium-dependent high-affinity choline transporter 1 (CHT), which is known to be mutated in one dominant form of distal motor neuronopathy (DHMN7A)...
September 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27542115/review-of-the-recurrent-8q13-2q13-3-branchio-oto-renal-related-microdeletion-and-report-of-an-additional-case-with-associated-distal-arthrogryposis
#12
Ping-Yee Billie Au, Judy E Chernos, Mary Ann Thomas
Recurrent 2.65 Mb deletions of 8q13.2q13.3 encompassing EYA1 have been recently described in the literature as a cause of branchio-oto-renal syndrome (BOR). Other clinical features of this recurrent microdeletion syndrome are still being delineated. We describe an additional patient with BOR due to microdeletion of 8q13.2q13.3. In addition to BOR related features, our patient presented with distal arthrogryposis that was detected prenatally, a phenotype that has not previously been described in patients with this deletion...
November 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27473021/muscle-biopsy-findings-in-a-child-with-nalcn-gene-mutation
#13
Indu Sivaraman, Neil R Friedman, Richard A Prayson
Mutation in NALCN (Sodium leak channel, non-selective) gene in humans has been shown to present with a wide spectrum of clinical manifestations including neurodevelopmental impairment, hypotonia and congenital contractures. Distinctive features including episodic ataxia and neuroaxonal dystrophy have also been reported. In this case report, we describe the muscle biopsy findings of a 3-year-old boy who presented with congenital arthrogryposis, hypotonia and developmental delay who has a heterozygous de novo C...
July 26, 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/27381093/protein-altering-myh3-variants-are-associated-with-a-spectrum-of-phenotypes-extending-to-spondylocarpotarsal-synostosis-syndrome
#14
Raphael Carapito, Alice Goldenberg, Nicodème Paul, Angélique Pichot, Albert David, Antoine Hamel, Clémentine Dumant-Forest, Julien Leroux, Benjamin Ory, Bertrand Isidor, Seiamak Bahram
Spondylocarpotarsal synostosis syndrome (SCT) is a rare Mendelian disorder (OMIM #272460) characterized by prenatal vertebral fusion, scoliosis, short stature and carpal and tarsal synostosis. SCT is typically known as an autosomal recessive disease caused by variants in the FLNB gene. The genetic basis of the rarer cases of vertical transmissions remains unknown. In two independent families with symptoms related to autosomal dominant SCT, we identified - by exome sequencing - two protein-altering variants in the embryonic myosin heavy chain 3 (MYH3) gene...
July 6, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27214504/novel-mutations-in-the-nonselective-sodium-leak-channel-nalcn-lead-to-distal-arthrogryposis-with-increased-muscle-tone
#15
Mert Karakaya, Raoul Heller, Volkmar Kunde, Klaus-Peter Zimmer, Cho-Ming Chao, Peter Nürnberg, Sebahattin Cirak
Distal arthrogryposis (DA) is a feature in genetically and clinically heterogeneous groups of disorders. Mostly myopathic and neurogenic defects have been described, but many patients remain without genetic diagnosis. We are elaborating on the clinical presentation of neonatal cases with DA who carry novel mutations in the nonselective sodium leak channel (NALCN). Two patients reported herein were remarkable for central hypertonicity in addition to DA. By trio-whole exome sequencing, two undescribed de novo mutations in NALCN were revealed...
August 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27066569/recessive-reep1-mutation-is-associated-with-congenital-axonal-neuropathy-and-diaphragmatic-palsy
#16
Gudrun Schottmann, Dominik Seelow, Franziska Seifert, Susanne Morales-Gonzalez, Esther Gill, Katja von Au, Arpad von Moers, Werner Stenzel, Markus Schuelke
OBJECTIVE: To identify the underlying genetic cause of a congenital neuropathy in a 5-year-old boy as part of a cohort of 32 patients from 23 families with genetically unresolved neuropathies. METHODS: We used autozygosity mapping coupled with next-generation sequencing to investigate a consanguineous family from Lebanon with 1 affected and 2 healthy children. Variants were investigated for segregation in the family by Sanger sequencing. A splice site mutation was further evaluated on the messenger RNA level by quantitative reverse transcription PCR...
December 2015: Neurology. Genetics
https://www.readbyqxmd.com/read/26951213/ecel1-mutation-implicates-impaired-axonal-arborization-of-motor-nerves-in-the-pathogenesis-of-distal-arthrogryposis
#17
Kenichi Nagata, Sumiko Kiryu-Seo, Hiromi Tamada, Fumi Okuyama-Uchimura, Hiroshi Kiyama, Takaomi C Saido
The membrane-bound metalloprotease endothelin-converting enzyme-like 1 (ECEL1) has been newly identified as a causal gene of a specific type of distal arthrogryposis (DA). In contrast to most causal genes of DA, ECEL1 is predominantly expressed in neuronal cells, suggesting a unique neurogenic pathogenesis in a subset of DA patients with ECEL1 mutation. The present study analyzed developmental motor innervation and neuromuscular junction formation in limbs of the rodent homologue damage-induced neuronal endopeptidase (DINE)-deficient mouse...
July 2016: Acta Neuropathologica
https://www.readbyqxmd.com/read/26945064/the-most-prevalent-freeman-sheldon-syndrome-mutations-in-the-embryonic-myosin-motor-share-functional-defects
#18
Jonathan Walklate, Carlos Vera, Marieke J Bloemink, Michael A Geeves, Leslie Leinwand
The embryonic myosin isoform is expressed during fetal development and rapidly down-regulated after birth. Freeman-Sheldon syndrome (FSS) is a disease associated with missense mutations in the motor domain of this myosin. It is the most severe form of distal arthrogryposis, leading to overcontraction of the hands, feet, and orofacial muscles and other joints of the body. Availability of human embryonic muscle tissue has been a limiting factor in investigating the properties of this isoform and its mutations...
May 6, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/26661508/expanding-the-mybpc1-phenotypic-spectrum-a-novel-homozygous-mutation-causes-arthrogryposis-multiplex-congenita
#19
N Ekhilevitch, A Kurolap, D Oz-Levi, A Mory, T Hershkovitz, G Ast, H Mandel, H N Baris
Arthrogryposis multiplex congenita (AMC) is characterized by heterogeneous nonprogressive multiple joint contractures appearing at birth. We present a consanguineous Israeli-Druze family with several members presenting with AMC. A variable intra-familial phenotype and pected autosomal recessive inheritance prompted molecular diagnosis by whole-exome sequencing. Variant analysis focused on rare homozygous changes, revealed a missense variant in MYBPC1, NM_002465:c.556G>A (p.E286K), affecting the last nucleotide of Exon 8...
July 2016: Clinical Genetics
https://www.readbyqxmd.com/read/26602803/-experience-in-molecular-diagnostic-in-hereditary-neuropathies-in-a-pediatric-tertiary-hospital
#20
Joaquín A Fernández-Ramos, Eduardo López-Laso, Rafael Camino-León, Francisco J Gascón-Jiménez, M Dolores Jiménez-González
INTRODUCTION: Charcot-Marie-Tooth (CMT) is the most common hereditary sensory motor neuropathy. Advances in molecular diagnosis have increased the diagnostic possibilities of these patients. PATIENTS AND METHODS: Retrospective study of 36 pediatric patients diagnosed with CMT in a tertiary center in 2003-2015. RESULTS: We found 16 patients were diagnosed by a duplication in PMP22; two cases were diagnosed of hereditary neuropathy with liability to pressure palsies, one with a point mutation in PMP22; a male with a mild demyelinating phenotype, without family history, was diagnosed with GJB1 mutation; in a patient with a peripheral hypotonia at birth and axonal pattern in EMG by mutation in MFN2; a gypsy patient, with consanguineous family, CMT4D, was identified by a mutation in the gene NDRG1; a patient with multiplex congenital arthrogryposis and vocal cord paralysis, whose mother had a scapular-peroneal syndrome, had a congenital spinal muscular atrophy with mild distal axonal neuropathy by mutation in gene TRPV4; three girls, from a gypsy consanguineous family, with axonal CMT with neuromyotonic discharges were diagnosed by a mutation in the gene HINT1; twelve patients haven't molecular diagnosis currently...
December 1, 2015: Revista de Neurologia
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