Literature DB >> 28638143

Siblings with optic neuropathy and RTN4IP1 mutation.

Nobuhiko Okamoto1, Fuyuki Miya2,3, Yoshikazu Hatsukawa4, Yasuhiro Suzuki5, Kazumi Kawato1, Yuto Yamamoto1, Tatsuhiko Tsunoda2,3, Mitsuhiro Kato6, Shinji Saitoh7, Mami Yamasaki8, Yonehiro Kanemura9,10, Kenjiro Kosaki11.   

Abstract

Inherited optic neuropathies (IONs) are neurodegenerative disorders affecting the optic nerve and the nervous system. Dominant and recessive IONs are known. Many of the dominant IONs are caused by mutations of OPA1. Autosomal-recessive IONs are rare. OPA10 is an autosomal-recessive ION due to mutations in RTN4IP1. Patients with RTN4IP1 mutations show extraocular manifestations. We report brothers with optic neuropathy who had novel mutations in the RTN4IP1 gene. This is the first report of Japanese patients with OPA10. They showed extraocular manifestations resembling mitochondrial encephalopathy.

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Year:  2017        PMID： 28638143     DOI： 10.1038/jhg.2017.68

Source DB:  PubMed          Journal:  J Hum Genet        ISSN： 1434-5161            Impact factor:   3.172


  10 in total

1.  OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.

Authors:  P Reynier; P Amati-Bonneau; C Verny; A Olichon; G Simard; A Guichet; C Bonnemains; F Malecaze; M C Malinge; J B Pelletier; P Calvas; H Dollfus; P Belenguer; Y Malthièry; G Lenaers; D Bonneau
Journal:  J Med Genet       Date:  2004-09       Impact factor: 6.318

2.  KIF1A mutation in a patient with progressive neurodegeneration.

Authors:  Nobuhiko Okamoto; Fuyuki Miya; Tatsuhiko Tsunoda; Keiko Yanagihara; Mitsuhiro Kato; Shinji Saitoh; Mami Yamasaki; Yonehiro Kanemura; Kenjiro Kosaki
Journal:  J Hum Genet       Date:  2014-09-25       Impact factor: 3.172

3.  Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.

Authors:  Metodi Dimitrov Metodiev; Sylvie Gerber; Laurence Hubert; Agnès Delahodde; Dominique Chretien; Xavier Gérard; Patrizia Amati-Bonneau; Marie-Christine Giacomotto; Nathalie Boddaert; Anna Kaminska; Isabelle Desguerre; Jeanne Amiel; Marlène Rio; Josseline Kaplan; Arnold Munnich; Agnès Rötig; Jean Michel Rozet; Claude Besmond
Journal:  J Med Genet       Date:  2014-10-28       Impact factor: 6.318

4.  Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy.

Authors:  C Delettre; G Lenaers; J M Griffoin; N Gigarel; C Lorenzo; P Belenguer; L Pelloquin; J Grosgeorge; C Turc-Carel; E Perret; C Astarie-Dequeker; L Lasquellec; B Arnaud; B Ducommun; J Kaplan; C P Hamel
Journal:  Nat Genet       Date:  2000-10       Impact factor: 38.330

5.  OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.

Authors:  C Alexander; M Votruba; U E Pesch; D L Thiselton; S Mayer; A Moore; M Rodriguez; U Kellner; B Leo-Kottler; G Auburger; S S Bhattacharya; B Wissinger
Journal:  Nat Genet       Date:  2000-10       Impact factor: 38.330

6.  Multi-system neurological disease is common in patients with OPA1 mutations.

Authors:  P Yu-Wai-Man; P G Griffiths; G S Gorman; C M Lourenco; A F Wright; M Auer-Grumbach; A Toscano; O Musumeci; M L Valentino; L Caporali; C Lamperti; C M Tallaksen; P Duffey; J Miller; R G Whittaker; M R Baker; M J Jackson; M P Clarke; B Dhillon; B Czermin; J D Stewart; G Hudson; P Reynier; D Bonneau; W Marques; G Lenaers; R McFarland; R W Taylor; D M Turnbull; M Votruba; M Zeviani; V Carelli; L A Bindoff; R Horvath; P Amati-Bonneau; P F Chinnery
Journal:  Brain       Date:  2010-02-15       Impact factor: 13.501

7.  TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.

Authors:  Sylvain Hanein; Isabelle Perrault; Olivier Roche; Sylvie Gerber; Noman Khadom; Marlene Rio; Nathalie Boddaert; Marc Jean-Pierre; Nora Brahimi; Valérie Serre; Dominique Chretien; Nathalie Delphin; Lucas Fares-Taie; Sahran Lachheb; Agnès Rotig; Françoise Meire; Arnold Munnich; Jean-Louis Dufier; Josseline Kaplan; Jean-Michel Rozet
Journal:  Am J Hum Genet       Date:  2009-03-26       Impact factor: 11.025

8.  Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations.

Authors:  Yutaka Nishigaki; Hitomi Ueno; Jorida Coku; Yasutoshi Koga; Tatsuya Fujii; Ko Sahashi; Kazutoshi Nakano; Makoto Yoneda; Michiko Nonaka; Linya Tang; Chia-Wei Liou; Veronique Paquis-Flucklinger; Yasuo Harigaya; Tohru Ibi; Yu-ichi Goto; Hiroko Hosoya; Salvatore DiMauro; Michio Hirano; Masashi Tanaka
Journal:  Mitochondrion       Date:  2010-01-11       Impact factor: 4.160

9.  Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation.

Authors:  Bianca Hartmann; Timothy Wai; Hao Hu; Thomas MacVicar; Luciana Musante; Björn Fischer-Zirnsak; Werner Stenzel; Ralph Gräf; Lambert van den Heuvel; Hans-Hilger Ropers; Thomas F Wienker; Christoph Hübner; Thomas Langer; Angela M Kaindl
Journal:  Elife       Date:  2016-08-06       Impact factor: 8.140

10.  Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.

Authors:  Claire Angebault; Pierre-Olivier Guichet; Yasmina Talmat-Amar; Majida Charif; Sylvie Gerber; Lucas Fares-Taie; Naig Gueguen; François Halloy; David Moore; Patrizia Amati-Bonneau; Gael Manes; Maxime Hebrard; Béatrice Bocquet; Mélanie Quiles; Camille Piro-Mégy; Marisa Teigell; Cécile Delettre; Mireille Rossel; Isabelle Meunier; Markus Preising; Birgit Lorenz; Valerio Carelli; Patrick F Chinnery; Patrick Yu-Wai-Man; Josseline Kaplan; Agathe Roubertie; Abdelhamid Barakat; Dominique Bonneau; Pascal Reynier; Jean-Michel Rozet; Pascale Bomont; Christian P Hamel; Guy Lenaers
Journal:  Am J Hum Genet       Date:  2015-10-22       Impact factor: 11.025
  10 in total
  3 in total

1.  Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4-Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic Neuropathies.

Authors:  Xiao-Huan Zou; Xin-Xin Guo; Hui-Zhen Su; Chong Wang; En-Lin Dong; Ning Wang; Wan-Jin Chen; Qi-Jie Zhang
Journal:  J Mol Neurosci       Date:  2019-05-10       Impact factor: 3.444

2.  Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis.

Authors:  Alissa M D'Gama; Eleina England; Jill A Madden; Jiahai Shi; Katherine R Chao; Monica H Wojcik; Alcy R Torres; Wen-Hann Tan; Gerard T Berry; Sanjay P Prabhu; Pankaj B Agrawal
Journal:  Am J Med Genet A       Date:  2020-10-09       Impact factor: 2.802

3.  A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families.

Authors:  Mazhor Aldosary; Maysoon Alsagob; Hanan AlQudairy; Ana C González-Álvarez; Stefan T Arold; Mohammad Anas Dababo; Omar A Alharbi; Rawan Almass; AlBandary AlBakheet; Dalia AlSarar; Alya Qari; Mysoon M Al-Ansari; Monika Oláhová; Saif A Al-Shahrani; Moeenaldeen AlSayed; Dilek Colak; Robert W Taylor; Mohammed AlOwain; Namik Kaya
Journal:  Cells       Date:  2022-10-07       Impact factor: 7.666
  3 in total

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