Literature DB >> 24101835

Spontaneous evolution of an unusual cortical malformation in SOX2 anophthalmia syndrome.

Jay Desai1, Tena Rosser.   

Abstract

Brain malformations such as agenesis and dysgenesis of corpus callosum, pituitary hypoplasia, hypothalamic hamartoma, mesial temporal periventricular heterotopia, and abnormally oriented and misshapen hippocampi have been described with SOX2 gene mutations. A neocortical malformation is presented here in association with SOX2 deletion that over time underwent spontaneous evolution and decrease in size.

Entities:  

Keywords:  Cortical malformation; SOX2; anophthalmia

Year:  2013        PMID： 24101835      PMCID： PMC3788299          DOI： 10.4103/0972-2327.116924

Source DB:  PubMed          Journal:  Ann Indian Acad Neurol        ISSN： 0972-2327            Impact factor:   1.383


  14 in total

Review 1.  Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families.

Authors:  Goslik E Schepers; Rohan D Teasdale; Peter Koopman
Journal:  Dev Cell       Date:  2002-08       Impact factor: 12.270

Review 2.  SOX genes and neural progenitor identity.

Authors:  Larysa Pevny; Marysia Placzek
Journal:  Curr Opin Neurobiol       Date:  2005-02       Impact factor: 6.627

3.  Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene.

Authors:  J C Zenteno; G Gascon-Guzman; J L Tovilla-Canales
Journal:  Clin Genet       Date:  2005-12       Impact factor: 4.438

Review 4.  From stem cells to neurons and glia: a Soxist's view of neural development.

Authors:  Michael Wegner; C Claus Stolt
Journal:  Trends Neurosci       Date:  2005-08-31       Impact factor: 13.837

5.  Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2.

Authors:  Agnès Guichet; Stéphane Triau; Catherine Lépinard; Chantal Esculapavit; Florence Biquard; Philippe Descamps; Férechté Encha-Razavi; Dominique Bonneau
Journal:  Prenat Diagn       Date:  2004-10       Impact factor: 3.050

6.  SOX2 anophthalmia syndrome.

Authors:  Nicola K Ragge; Birgit Lorenz; Adele Schneider; Kate Bushby; Luisa de Sanctis; Ugo de Sanctis; Alison Salt; J Richard O Collin; Anthony J Vivian; Samantha L Free; Pamela Thompson; Kathleen A Williamson; Sanjay M Sisodiya; Veronica van Heyningen; David R Fitzpatrick
Journal:  Am J Med Genet A       Date:  2005-05-15       Impact factor: 2.802

7.  Mutations in SOX2 cause anophthalmia.

Authors:  Judy Fantes; Nicola K Ragge; Sally-Ann Lynch; Niolette I McGill; J Richard O Collin; Patricia N Howard-Peebles; Caroline Hayward; Anthony J Vivian; Kathy Williamson; Veronica van Heyningen; David R FitzPatrick
Journal:  Nat Genet       Date:  2003-03-03       Impact factor: 38.330

Review 8.  The role of SOX2 in hypogonadotropic hypogonadism.

Authors:  V Tziaferi; D Kelberman; M T Dattani
Journal:  Sex Dev       Date:  2008-11-05       Impact factor: 1.824

9.  Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.

Authors:  Kathleen A Williamson; Ann M Hever; Joe Rainger; R Curtis Rogers; Alex Magee; Zdenek Fiedler; Wee Teik Keng; Freddie H Sharkey; Niolette McGill; Clare J Hill; Adele Schneider; Mario Messina; Peter D Turnpenny; Judy A Fantes; Veronica van Heyningen; David R FitzPatrick
Journal:  Hum Mol Genet       Date:  2006-03-16       Impact factor: 6.150

10.  Role of SOX2 mutations in human hippocampal malformations and epilepsy.

Authors:  Sanjay M Sisodiya; Nicola K Ragge; Gianpiero L Cavalleri; Ann Hever; Birgit Lorenz; Adele Schneider; Kathleen A Williamson; John M Stevens; Samantha L Free; Pamela J Thompson; Veronica van Heyningen; David R Fitzpatrick
Journal:  Epilepsia       Date:  2006-03       Impact factor: 5.864
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