Literature DB >> 12612584

Mutations in SOX2 cause anophthalmia.

Judy Fantes1, 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.   

Abstract

A submicroscopic deletion containing SOX2 was identified at the 3q breakpoint in a child with t(3;11)(q26.3;p11.2) associated with bilateral anophthalmia. Subsequent SOX2 mutation analysis identified de novo truncating mutations of SOX2 in 4 of 35 (11%) individuals with anophthalmia. Both eyes were affected in all cases with an identified mutation.

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Year:  2003        PMID： 12612584     DOI： 10.1038/ng1120

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  200 in total

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Review 2.  Long noncoding RNA and its contribution to autism spectrum disorders.

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Review 3.  Eye development genes and known syndromes.

Authors:  Anne M Slavotinek
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4.  Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.

Authors:  Ivan Prokudin; Cas Simons; John R Grigg; Rebecca Storen; Vikrant Kumar; Zai Y Phua; James Smith; Maree Flaherty; Sonia Davila; Robyn V Jamieson
Journal:  Eur J Hum Genet       Date:  2013-11-27       Impact factor: 4.246

5.  SOX2 is a dose-dependent regulator of retinal neural progenitor competence.

Authors:  Olena V Taranova; Scott T Magness; B Matthew Fagan; Yongqin Wu; Natalie Surzenko; Scott R Hutton; Larysa H Pevny
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6.  Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease.

Authors:  Christopher M Chou; Christine Nelson; Susan A Tarlé; Jonathan T Pribila; Tanya Bardakjian; Sean Woods; Adele Schneider; Tom Glaser
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7.  Genetic and phenotypic analysis of Tcm, a mutation affecting early eye development.

Authors:  Ken S Wang; Lauren E Zahn; Jack Favor; Kristen M Huang; Dwight Stambolian
Journal:  Mamm Genome       Date:  2005-05       Impact factor: 2.957

8.  Xenopus Sox3 activates sox2 and geminin and indirectly represses Xvent2 expression to induce neural progenitor formation at the expense of non-neural ectodermal derivatives.

Authors:  Crystal D Rogers; Naoe Harafuji; Tenley Archer; Doreen D Cunningham; Elena S Casey
Journal:  Mech Dev       Date:  2008-10-17       Impact factor: 1.882

9.  CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds.

Authors:  Udy Bar-Yosef; Izzeldin Abuelaish; Tamar Harel; Neta Hendler; Rivka Ofir; Ohad S Birk
Journal:  Hum Genet       Date:  2004-09       Impact factor: 4.132

10.  Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.

Authors:  Alex Choi; Richard Lao; Paul Ling-Fung Tang; Eunice Wan; Wasima Mayer; Tanya Bardakjian; Gary M Shaw; Pui-Yan Kwok; Adele Schneider; Anne Slavotinek
Journal:  Eur J Hum Genet       Date:  2014-06-18       Impact factor: 4.246
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