Literature DB >> 17163544

Sibling cases of Vici syndrome: sleep abnormalities and complications of renal tubular acidosis.

Rie Miyata1, Masaharu Hayashi, Hiroyuki Sato, Yuji Sugawara, Takako Yui, Satoshi Araki, Takeshi Hasegawa, Shozaburo Doi, Jun Kohyama.   

Abstract

Vici syndrome is a rare congenital disorder characterized by albinism, agenesis of the corpus callosum, and developmental delays. Cardiac complications usually cause poor prognosis. We report sibling cases of Vici syndrome, and address complications of renal tubular acidosis. We also demonstrate the significance of serial examinations of brain natriuretic peptides, and discuss the possible early use of a beta-blocker to control cardiomyopathy. A sleep study including polysomnography indicated functional brainstem involvement, in which muscle atonia during non-rapid sleeping eye movements, and bursts of rapid eye movements increased. These findings provide new clues for medical care of patients with Vici syndrome. (c) 2006 Wiley-Liss, Inc

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Year:  2007        PMID: 17163544     DOI: 10.1002/ajmg.a.31584

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  12 in total

Review 1.  Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.

Authors:  Darius Ebrahimi-Fakhari; Afshin Saffari; Lara Wahlster; Jenny Lu; Susan Byrne; Georg F Hoffmann; Heinz Jungbluth; Mustafa Sahin
Journal:  Brain       Date:  2015-12-29       Impact factor: 13.501

2.  Role of Epg5 in selective neurodegeneration and Vici syndrome.

Authors:  Yan G Zhao; Hongyu Zhao; Huayu Sun; Hong Zhang
Journal:  Autophagy       Date:  2013-05-14       Impact factor: 16.016

3.  EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders.

Authors:  Shanti Balasubramaniam; Lisa G Riley; Anand Vasudevan; Mark J Cowley; Velimir Gayevskiy; Carolyn M Sue; Caitlin Edwards; Edward Edkins; Reimar Junckerstorff; C Kiraly-Borri; P Rowe; J Christodoulou
Journal:  JIMD Rep       Date:  2017-11-21

4.  Clinical utility gene card for: Vici Syndrome.

Authors:  Thomas Cullup; Carlo Dionisi-Vici; Ay L Kho; Shu Yau; Shehla Mohammed; Mathias Gautel; Heinz Jungbluth
Journal:  Eur J Hum Genet       Date:  2013-07-10       Impact factor: 4.246

Review 5.  Vici syndrome: a review.

Authors:  Susan Byrne; Carlo Dionisi-Vici; Luke Smith; Mathias Gautel; Heinz Jungbluth
Journal:  Orphanet J Rare Dis       Date:  2016-02-29       Impact factor: 4.123

6.  EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.

Authors:  Susan Byrne; Lara Jansen; Jean-Marie U-King-Im; Ata Siddiqui; Hart G W Lidov; Istvan Bodi; Luke Smith; Rachael Mein; Thomas Cullup; Carlo Dionisi-Vici; Lihadh Al-Gazali; Mohammed Al-Owain; Zandre Bruwer; Khalid Al Thihli; Rana El-Garhy; Kevin M Flanigan; Kandamurugu Manickam; Erik Zmuda; Wesley Banks; Ruth Gershoni-Baruch; Hanna Mandel; Efrat Dagan; Annick Raas-Rothschild; Hila Barash; Francis Filloux; Donnell Creel; Michael Harris; Ada Hamosh; Stefan Kölker; Darius Ebrahimi-Fakhari; Georg F Hoffmann; David Manchester; Philip J Boyer; Adnan Y Manzur; Charles Marques Lourenco; Daniela T Pilz; Arveen Kamath; Prab Prabhakar; Vamshi K Rao; R Curtis Rogers; Monique M Ryan; Natasha J Brown; Catriona A McLean; Edith Said; Ulrike Schara; Anja Stein; Caroline Sewry; Laura Travan; Frits A Wijburg; Martin Zenker; Shehla Mohammed; Manolis Fanto; Mathias Gautel; Heinz Jungbluth
Journal:  Brain       Date:  2016-03       Impact factor: 13.501

7.  Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.

Authors:  Ikumi Hori; Takanobu Otomo; Mitsuko Nakashima; Fuyuki Miya; Yutaka Negishi; Hideaki Shiraishi; Yutaka Nonoda; Shinichi Magara; Jun Tohyama; Nobuhiko Okamoto; Takeshi Kumagai; Konomi Shimoda; Yoshiya Yukitake; Daigo Kajikawa; Tomohiro Morio; Ayako Hattori; Motoo Nakagawa; Naoki Ando; Ichizo Nishino; Mitsuhiro Kato; Tatsuhiko Tsunoda; Hirotomo Saitsu; Yonehiro Kanemura; Mami Yamasaki; Kenjiro Kosaki; Naomichi Matsumoto; Tamotsu Yoshimori; Shinji Saitoh
Journal:  Sci Rep       Date:  2017-06-14       Impact factor: 4.379

8.  Vici syndrome: a rare autosomal recessive syndrome with brain anomalies, cardiomyopathy, and severe intellectual disability.

Authors:  R Curtis Rogers; Bridgette Aufmuth; Stephanie Monesson
Journal:  Case Rep Genet       Date:  2011-06-22

9.  Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

Authors:  Thomas Cullup; Ay Lin Kho; Carlo Dionisi-Vici; Birgit Brandmeier; Frances Smith; Zoe Urry; Michael A Simpson; Shu Yau; Enrico Bertini; Verity McClelland; Mohammed Al-Owain; Stefan Koelker; Christian Koerner; Georg F Hoffmann; Frits A Wijburg; Amber E ten Hoedt; R Curtis Rogers; David Manchester; Rie Miyata; Masaharu Hayashi; Elizabeth Said; Doriette Soler; Peter M Kroisel; Christian Windpassinger; Francis M Filloux; Salwa Al-Kaabi; Jozef Hertecant; Miguel Del Campo; Stefan Buk; Istvan Bodi; Hans-Hilmar Goebel; Caroline A Sewry; Stephen Abbs; Shehla Mohammed; Dragana Josifova; Mathias Gautel; Heinz Jungbluth
Journal:  Nat Genet       Date:  2012-12-09       Impact factor: 38.330

10.  A Case of a Newborn with Agenesis of the Corpus Callosum Complicated with Ocular Albinism.

Authors:  Michiko Miki; Makiko Miyamoto; Tatsuma Mitsutsuji; Hiroko Watanabe; Kazuhiro Shimizu; Junko Matsuo; Masahiro Tonari; Teruyo Kida; Jun Sugasawa; Tsunehiko Ikeda
Journal:  Case Rep Ophthalmol       Date:  2016-05-10
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