Literature DB >> 35005077

Dystonia-Deafness Syndrome: ACTB Pathogenic Variant in an Argentinean Family.

Lucía Zavala1, Gabriela Ziegler2, Dolores González Morón1, Nélida Garretto2.   

Abstract

Entities:  

Keywords:  ACTB gene; Baraister‐Winter cerebrofrontofacial syndrome; blepharospasm; craniofacial anomalies; deafness‐dystonia

Year:  2021        PMID： 35005077      PMCID： PMC8721817          DOI： 10.1002/mdc3.13358

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  10 in total

1.  A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.

Authors:  Vincent Procaccio; Gloria Salazar; Shoichiro Ono; Melanie L Styers; Marla Gearing; Antonio Davila; Richard Jimenez; Jorge Juncos; Claire-Anne Gutekunst; Germana Meroni; Bianca Fontanella; Estelle Sontag; Jean Marie Sontag; Victor Faundez; Bruce H Wainer
Journal:  Am J Hum Genet       Date:  2006-04-21       Impact factor: 11.025

2.  Molecular mechanisms of disease-related human β-actin mutations p.R183W and p.E364K.

Authors:  Nikolas Hundt; Matthias Preller; Olga Swolski; Angella M Ang; Hans G Mannherz; Dietmar J Manstein; Mirco Müller
Journal:  FEBS J       Date:  2014-10-13       Impact factor: 5.542

3.  Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change? Two Novel Mutations and Literature Review.

Authors:  Anna Sandestig; Anna Green; Jon Jonasson; Hartmut Vogt; Johan Wahlström; Alexander Pepler; Katarina Ellnebo; Saskia Biskup; Margarita Stefanova
Journal:  Mol Syndromol       Date:  2018-08-09

4.  Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.

Authors:  Michael Zech; Robert Jech; Matias Wagner; Tobias Mantel; Sylvia Boesch; Michael Nocker; Angela Jochim; Riccardo Berutti; Petra Havránková; Anna Fečíková; David Kemlink; Jan Roth; Tim M Strom; Werner Poewe; Evžen Růžička; Bernhard Haslinger; Juliane Winkelmann
Journal:  Neurogenetics       Date:  2017-08-28       Impact factor: 2.660

5.  Expanding the Phenotype of Dystonia-Deafness Syndrome Caused by ACTB Gene Mutation.

Authors:  Julian Letícia Freitas; Thiago Cardoso Vale; Orlando G P Barsottini; José Luiz Pedroso
Journal:  Mov Disord Clin Pract       Date:  2019-11-14

6.  Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation.

Authors:  Hendriekje Eggink; Martje E van Egmond; Corien C Verschuuren-Bemelmans; Marleen C Schönherr; Tom J de Koning; D L Marinus Oterdoom; J Marc C van Dijk; Marina A J Tijssen
Journal:  Mov Disord       Date:  2016-11-08       Impact factor: 10.338

7.  Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

Authors:  Alain Verloes; Nataliya Di Donato; Julien Masliah-Planchon; Marjolijn Jongmans; Omar A Abdul-Raman; Beate Albrecht; Judith Allanson; Han Brunner; Debora Bertola; Nicolas Chassaing; Albert David; Koen Devriendt; Pirayeh Eftekhari; Valérie Drouin-Garraud; Francesca Faravelli; Laurence Faivre; Fabienne Giuliano; Leina Guion Almeida; Jorge Juncos; Marlies Kempers; Hatice Koçak Eker; Didier Lacombe; Angela Lin; Grazia Mancini; Daniela Melis; Charles Marques Lourenço; Victoria Mok Siu; Gilles Morin; Marjan Nezarati; Malgorzata J M Nowaczyk; Jeanette C Ramer; Sara Osimani; Nicole Philip; Mary Ella Pierpont; Vincent Procaccio; Zeichi-Seide Roseli; Massimiliano Rossi; Cristina Rusu; Yves Sznajer; Ludivine Templin; Vera Uliana; Mirjam Klaus; Bregje Van Bon; Conny Van Ravenswaaij; Bruce Wainer; Andrew E Fry; Andreas Rump; Alexander Hoischen; Séverine Drunat; Jean-Baptiste Rivière; William B Dobyns; Daniela T Pilz
Journal:  Eur J Hum Genet       Date:  2014-07-23       Impact factor: 4.246

8.  Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation.

Authors:  Erin Conboy; Filippo Vairo; Darrel Waggoner; Carole Ober; Soma Das; Radhika Dhamija; Eric W Klee; Pavel Pichurin
Journal:  Case Rep Genet       Date:  2017-04-12

9.  Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation.

Authors:  Inger Marie Skogseid; Oddveig Røsby; Ane Konglund; James P Connelly; Bård Nedregaard; Greg Eigner Jablonski; Nadja Kvernmo; Asbjørg Stray-Pedersen; Joel C Glover
Journal:  J Neurodev Disord       Date:  2018-05-22       Impact factor: 4.025

10.  Exome sequencing in paediatric patients with movement disorders.

Authors:  Anna Ka-Yee Kwong; Mandy Ho-Yin Tsang; Jasmine Lee-Fong Fung; Christopher Chun-Yu Mak; Kate Lok-San Chan; Richard J T Rodenburg; Monkol Lek; Shushu Huang; Sander Pajusalu; Man-Mut Yau; Cheung Tsoi; Sharon Fung; Kam-Tim Liu; Che-Kwan Ma; Sheila Wong; Eric Kin-Cheong Yau; Shuk-Mui Tai; Eva Lai-Wah Fung; Nick Shun-Ping Wu; Li-Yan Tsung; Jan Smeitink; Brian Hon-Yin Chung; Cheuk-Wing Fung
Journal:  Orphanet J Rare Dis       Date:  2021-01-15       Impact factor: 4.123
  10 in total

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