Literature DB >> 30713915

BCAP31 Mutation Causing a Syndrome of Congenital Dystonia, Facial Dysorphism and Central Hypomyelination Discovered Using Exome Sequencing.

Padmaja Vittal1, Deborah A Hall1, Shale Dames2, Rong Mao3,4, Elizabeth Berry-Kravis5.   

Abstract

Entities:  

Keywords:  BCAP31 mutation; congenital dystonia; exome sequencing

Year:  2015        PMID： 30713915      PMCID： PMC6353445          DOI： 10.1002/mdc3.12250

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


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  5 in total

Review 1.  Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm.

Authors:  Martje E van Egmond; Anouk Kuiper; Hendriekje Eggink; Richard J Sinke; Oebele F Brouwer; Corien C Verschuuren-Bemelmans; Deborah A Sival; Marina A J Tijssen; Tom J de Koning
Journal:  J Neurol Neurosurg Psychiatry       Date:  2014-11-13       Impact factor: 10.154

Review 2.  Isolated and combined dystonia syndromes - an update on new genes and their phenotypes.

Authors:  B Balint; K P Bhatia
Journal:  Eur J Neurol       Date:  2015-01-29       Impact factor: 6.089

3.  Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus.

Authors:  Pierre Cacciagli; Julie Sutera-Sardo; Ana Borges-Correia; Jean-Christophe Roux; Imen Dorboz; Jean-Pierre Desvignes; Catherine Badens; Marc Delepine; Mark Lathrop; Pierre Cau; Nicolas Lévy; Nadine Girard; Pierre Sarda; Odile Boespflug-Tanguy; Laurent Villard
Journal:  Am J Hum Genet       Date:  2013-09-05       Impact factor: 11.025

4.  The syndrome of deafness-dystonia: clinical and genetic heterogeneity.

Authors:  Maja Kojovic; Isabel Pareés; Tania Lampreia; Karolina Pienczk-Reclawowicz; Georgia Xiromerisiou; Ignacio Rubio-Agusti; Milica Kramberger; Miryam Carecchio; Anas M Alazami; Francesco Brancati; Jaroslaw Slawek; Zvezdan Pirtosek; Enza Maria Valente; Fowzan S Alkuraya; Mark J Edwards; Kailash P Bhatia
Journal:  Mov Disord       Date:  2013-02-15       Impact factor: 10.338

5.  Exome sequencing reveals a novel WDR45 frameshift mutation and inherited POLR3A heterozygous variants in a female with a complex phenotype and mixed brain MRI findings.

Authors:  Mohamed Khalifa; Lena Naffaa
Journal:  Eur J Med Genet       Date:  2015-06-19       Impact factor: 2.708
  5 in total
  1 in total

1.  Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.

Authors:  Jozef Gecz; Laurent Villard; Sandra Whalen; Marie Shaw; Cyril Mignot; Delphine Héron; Sandra Chantot Bastaraud; Cecile Cieuta Walti; Jan Liebelt; Frances Elmslie; Patrick Yap; Jane Hurst; Elisabeth Forsythe; Brian Kirmse; Jillian Ozmore; Alessandro Mauro Spinelli; Olga Calabrese; Thierry Billette de Villemeur; Anne Claude Tabet; Jonathan Levy; Agnes Guet; Manoëlle Kossorotoff; Benjamin Kamien; Jenny Morton; Anne McCabe; Elise Brischoux-Boucher; Annick Raas-Rothschild; Antonella Pini; Renée Carroll; Jessica N Hartley; Patrick Frosk; Anne Slavotinek; Kristen Truxal; Carroll Jennifer; Annelies Dheedene; Hong Cui; Vishal Kumar; Glen Thomson; Florence Riccardi
Journal:  Eur J Hum Genet       Date:  2021-02-18       Impact factor: 5.351
  1 in total

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