Literature DB >> 15304601

SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma.

R Hirano1, H Takashima, F Umehara, H Arimura, K Michizono, Y Okamoto, M Nakagawa, C F Boerkoel, J R Lupski, M Osame, K Arimura.   

Abstract

The authors report a Japanese family segregating autosomal recessive Charcot-Marie-Tooth disease (CMT) with focally folded myelin, juvenile-onset glaucoma, and a nonsense mutation of SET binding factor 2 (SBF2). The consistent phenotypic features associated with SBF2 mutations are early-onset demyelinating neuropathy, myelin folding, and markedly decreased motor nerve conduction velocities; glaucoma associates with SBF2 nonsense mutations.

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Year:  2004        PMID： 15304601     DOI： 10.1212/01.wnl.0000133211.40288.9a

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  19 in total

Review 1.  Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies.

Authors:  Kinga Szigeti; Eva Nelis; James R Lupski
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

Review 2.  Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.

Authors:  D Pareyson; V Scaioli; M Laurà
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

Review 3.  Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.

Authors:  O Dubourg; H Azzedine; C Verny; G Durosier; N Birouk; R Gouider; M Salih; A Bouhouche; A Thiam; D Grid; M Mayer; M Ruberg; M Tazir; A Brice; E LeGuern
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

4.  Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice.

Authors:  Fred L Robinson; Ingrid R Niesman; Kristina K Beiswenger; Jack E Dixon
Journal:  Proc Natl Acad Sci U S A       Date:  2008-03-18       Impact factor: 11.205

Review 5.  Dysregulation of ErbB Receptor Trafficking and Signaling in Demyelinating Charcot-Marie-Tooth Disease.

Authors:  Samuel M Lee; Lih-Shen Chin; Lian Li
Journal:  Mol Neurobiol       Date:  2016-01-05       Impact factor: 5.590

6.  Identification of a novel SBF2 missense mutation associated with a rare case of thrombocytopenia using whole-exome sequencing.

Authors:  Adel M Abuzenadah; Galila F Zaher; Ashraf Dallol; Ghazi A Damanhouri; Adeel G Chaudhary; Faten Al-Sayes; Mamdooh A Gari; Mofareh AlZahrani; Salwa Hindawi; Mohammed H Al-Qahtani
Journal:  J Thromb Thrombolysis       Date:  2013-11       Impact factor: 2.300

7.  SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement.

Authors:  Andreea Manole; Alejandro Horga; Josep Gamez; Nuria Raguer; Maria Salvado; Beatriz San Millán; Carmen Navarro; Alan Pittmann; Mary M Reilly; Henry Houlden
Journal:  Neurogenetics       Date:  2016-12-22       Impact factor: 2.660

8.  Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.

Authors:  Maria Schabhüttl; Thomas Wieland; Jan Senderek; Jonathan Baets; Vincent Timmerman; Peter De Jonghe; Mary M Reilly; Karl Stieglbauer; Eva Laich; Reinhard Windhager; Wolfgang Erwa; Slave Trajanoski; Tim M Strom; Michaela Auer-Grumbach
Journal:  J Neurol       Date:  2014-03-15       Impact factor: 4.849

9.  Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D.

Authors:  Yuji Okamoto; Meryem Tuba Goksungur; Davut Pehlivan; Christine R Beck; Claudia Gonzaga-Jauregui; Donna M Muzny; Mehmed M Atik; Claudia M B Carvalho; Zeliha Matur; Serife Bayraktar; Philip M Boone; Kaya Akyuz; Richard A Gibbs; Esra Battaloglu; Yesim Parman; James R Lupski
Journal:  Genet Med       Date:  2013-10-17       Impact factor: 8.822

Review 10.  The Roles of Pseudophosphatases in Disease.

Authors:  Andrew M Mattei; Jonathan D Smailys; Emma Marie Wilber Hepworth; Shantá D Hinton
Journal:  Int J Mol Sci       Date:  2021-06-28       Impact factor: 5.923
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