Literature DB >> 30249361

Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis.

Jaya Punetha1, Loren Mackay-Loder2, Tamar Harel3, Zeynep Coban-Akdemir1, Shalini N Jhangiani4, Richard A Gibbs5, Ian Lee2, Deborah Terespolsky2, James R Lupski6, Jennifer E Posey7.   

Abstract

Charcot-Marie-Tooth (CMT) disease type 1 is an inherited peripheral neuropathy characterized by demyelination and reduced nerve conduction velocities. We present a multi-generational family with peripheral neuropathy in whom clinical CMT panel testing failed to conclude a molecular diagnosis. We found a PMP2 pathogenic variant c.155T > C, p.(Ile52Thr) that segregates with disease suggesting that PMP2 variants should be considered in patients with neuropathy and that it may be prudent to include in clinical CMT gene panels.
Copyright © 2018 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  CMT; Charcot-Marie-Tooth disease; Myelin P2 protein; PMP2; Peripheral myelin protein 2; Peripheral neuropathy

Mesh：

Substances：

Year:  2018        PMID： 30249361      PMCID： PMC6326168          DOI： 10.1016/j.ymgme.2018.08.005

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


  29 in total

1.  The Role of Peripheral Myelin Protein 2 in Remyelination.

Authors:  Mark Stettner; Jennifer Zenker; Fabian Klingler; Fabian Szepanowski; Hans-P Hartung; Anne K Mausberg; Christoph Kleinschnitz; Roman Chrast; Bernd C Kieseier
Journal:  Cell Mol Neurobiol       Date:  2017-04-26       Impact factor: 5.046

2.  A role of peripheral myelin protein 2 in lipid homeostasis of myelinating Schwann cells.

Authors:  Jennifer Zenker; Mark Stettner; Salla Ruskamo; Enric Domènech-Estévez; Hasna Baloui; Jean-Jacques Médard; Mark H G Verheijen; Jos F Brouwers; Petri Kursula; Bernd C Kieseier; Roman Chrast
Journal:  Glia       Date:  2014-05-21       Impact factor: 7.452

3.  WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.

Authors:  Janson J White; Juliana F Mazzeu; Zeynep Coban-Akdemir; Yavuz Bayram; Vahid Bahrambeigi; Alexander Hoischen; Bregje W M van Bon; Alper Gezdirici; Elif Yilmaz Gulec; Francis Ramond; Renaud Touraine; Julien Thevenon; Marwan Shinawi; Erin Beaver; Jennifer Heeley; Julie Hoover-Fong; Ceren D Durmaz; Halil Gurhan Karabulut; Ebru Marzioglu-Ozdemir; Atilla Cayir; Mehmet B Duz; Mehmet Seven; Susan Price; Barbara Merfort Ferreira; Angela M Vianna-Morgante; Sian Ellard; Andrew Parrish; Karen Stals; Josue Flores-Daboub; Shalini N Jhangiani; Richard A Gibbs; Han G Brunner; V Reid Sutton; James R Lupski; Claudia M B Carvalho
Journal:  Am J Hum Genet       Date:  2017-12-21       Impact factor: 11.025

4.  Genetic and clinical aspects of Charcot-Marie-Tooth's disease.

Authors:  H Skre
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

5.  Ultrastructural localization of P2 protein in actively myelinating rat Schwann cells.

Authors:  B D Trapp; M Dubois-Dalcq; R H Quarles
Journal:  J Neurochem       Date:  1984-10       Impact factor: 5.372

6.  A method and server for predicting damaging missense mutations.

Authors:  Ivan A Adzhubei; Steffen Schmidt; Leonid Peshkin; Vasily E Ramensky; Anna Gerasimova; Peer Bork; Alexey S Kondrashov; Shamil R Sunyaev
Journal:  Nat Methods       Date:  2010-04       Impact factor: 28.547

7.  Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

Authors:  Claudia Gonzaga-Jauregui; Tamar Harel; Tomasz Gambin; Maria Kousi; Laurie B Griffin; Ludmila Francescatto; Burcak Ozes; Ender Karaca; Shalini N Jhangiani; Matthew N Bainbridge; Kim S Lawson; Davut Pehlivan; Yuji Okamoto; Marjorie Withers; Pedro Mancias; Anne Slavotinek; Pamela J Reitnauer; Meryem T Goksungur; Michael Shy; Thomas O Crawford; Michel Koenig; Jason Willer; Brittany N Flores; Igor Pediaditrakis; Onder Us; Wojciech Wiszniewski; Yesim Parman; Anthony Antonellis; Donna M Muzny; Nicholas Katsanis; Esra Battaloglu; Eric Boerwinkle; Richard A Gibbs; James R Lupski
Journal:  Cell Rep       Date:  2015-08-06       Impact factor: 9.423

8.  Allergic neuritis: phospholipid requirement for the disease-inducing conformation of the P2 protein.

Authors:  A Ishaque; I Szymanska; J Ramwani; E H Eylar
Journal:  Biochim Biophys Acta       Date:  1981-06-29

Review 9.  Charcot-Marie-Tooth disease and pathways to molecular based therapies.

Authors:  T Harel; J R Lupski
Journal:  Clin Genet       Date:  2014-05-09       Impact factor: 4.438

Review 10.  Recent advances in the genetic neuropathies.

Authors:  Alexander M Rossor; Pedro J Tomaselli; Mary M Reilly
Journal:  Curr Opin Neurol       Date:  2016-10       Impact factor: 5.710
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  4 in total

1.  Cryo-EM, X-ray diffraction, and atomistic simulations reveal determinants for the formation of a supramolecular myelin-like proteolipid lattice.

Authors:  Salla Ruskamo; Oda C Krokengen; Julia Kowal; Tuomo Nieminen; Mari Lehtimäki; Arne Raasakka; Venkata P Dandey; Ilpo Vattulainen; Henning Stahlberg; Petri Kursula
Journal:  J Biol Chem       Date:  2020-04-07       Impact factor: 5.157

2.  Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.

Authors:  Dana Marafi; Jawid M Fatih; Rauan Kaiyrzhanov; Matteo P Ferla; Charul Gijavanekar; Aljazi Al-Maraghi; Ning Liu; Emily Sites; Hessa S Alsaif; Mohammad Al-Owain; Mohamed Zakkariah; Ehab El-Anany; Ulviyya Guliyeva; Sughra Guliyeva; Colette Gaba; Ateeq Haseeb; Amal M Alhashem; Enam Danish; Vasiliki Karageorgou; Christian Beetz; Alaa A Subhi; Sureni V Mullegama; Erin Torti; Monisha Sebastin; Margo Sheck Breilyn; Susan Duberstein; Mohamed S Abdel-Hamid; Tadahiro Mitani; Haowei Du; Jill A Rosenfeld; Shalini N Jhangiani; Zeynep Coban Akdemir; Richard A Gibbs; Jenny C Taylor; Khalid A Fakhro; Jill V Hunter; Davut Pehlivan; Maha S Zaki; Joseph G Gleeson; Reza Maroofian; Henry Houlden; Jennifer E Posey; V Reid Sutton; Fowzan S Alkuraya; Sarah H Elsea; James R Lupski
Journal:  Brain       Date:  2022-04-29       Impact factor: 15.255

3.  Sub-Atomic Resolution Crystal Structures Reveal Conserved Geometric Outliers at Functional Sites.

Authors:  Saara Laulumaa; Petri Kursula
Journal:  Molecules       Date:  2019-08-22       Impact factor: 4.411

4.  Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy.

Authors:  Paulius Palaima; Teodora Chamova; Sebastian Jander; Vanyo Mitev; Christine Van Broeckhoven; Ivailo Tournev; Kristien Peeters; Albena Jordanova
Journal:  Orphanet J Rare Dis       Date:  2019-08-14       Impact factor: 4.123
  4 in total

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