Literature DB >> 20054790

Malformations of the brain in two fetuses with a compound heterozygosity for two PAX6 mutations.

Bogna Schmidt-Sidor1, Krystyna Szymańska, Kathleen Williamson, Veronica van Heyningen, Tomasz Roszkowski, Teresa Wierzba-Bobrowicz, Jacek Zaremba.   

Abstract

PPAX6 is an important transcription factor which plays an essential role in brain morphogenesis and eye development. It is related to migration of neuroblasts to the cerebral cortex and deep telencephalic nuclei, and the specification of cellular and regional identity. Disturbances of brain development in two sib fetuses whose parents were aniridic (both sporadic cases) are reported. Molecular analysis in both parents has shown different mutations in PAX6 gene and a compound heterozygosity for two PAX6 mutations in both fetuses. Neuropathologically both cases showed severe brain malformations with increased germinal proliferation, gross disturbances of migration and organization of the CNS.

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Year:  2009        PMID： 20054790

Source DB:  PubMed          Journal:  Folia Neuropathol        ISSN： 1509-572X            Impact factor:   2.038


  13 in total

Review 1.  Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.

Authors:  Linda M Reis; Elena V Semina
Journal:  Birth Defects Res C Embryo Today       Date:  2015-06-03

2.  SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Authors:  Natalie D Shaw; Harrison Brand; Zachary A Kupchinsky; Hemant Bengani; Lacey Plummer; Takako I Jones; Serkan Erdin; Kathleen A Williamson; Joe Rainger; Alexei Stortchevoi; Kaitlin Samocha; Benjamin B Currall; Donncha S Dunican; Ryan L Collins; Jason R Willer; Angela Lek; Monkol Lek; Malik Nassan; Shahrin Pereira; Tammy Kammin; Diane Lucente; Alexandra Silva; Catarina M Seabra; Colby Chiang; Yu An; Morad Ansari; Jacqueline K Rainger; Shelagh Joss; Jill Clayton Smith; Margaret F Lippincott; Sylvia S Singh; Nirav Patel; Jenny W Jing; Jennifer R Law; Nalton Ferraro; Alain Verloes; Anita Rauch; Katharina Steindl; Markus Zweier; Ianina Scheer; Daisuke Sato; Nobuhiko Okamoto; Christina Jacobsen; Jeanie Tryggestad; Steven Chernausek; Lisa A Schimmenti; Benjamin Brasseur; Claudia Cesaretti; Jose E García-Ortiz; Tatiana Pineda Buitrago; Orlando Perez Silva; Jodi D Hoffman; Wolfgang Mühlbauer; Klaus W Ruprecht; Bart L Loeys; Masato Shino; Angela M Kaindl; Chie-Hee Cho; Cynthia C Morton; Richard R Meehan; Veronica van Heyningen; Eric C Liao; Ravikumar Balasubramanian; Janet E Hall; Stephanie B Seminara; Daniel Macarthur; Steven A Moore; Koh-Ichiro Yoshiura; James F Gusella; Joseph A Marsh; John M Graham; Angela E Lin; Nicholas Katsanis; Peter L Jones; William F Crowley; Erica E Davis; David R FitzPatrick; Michael E Talkowski
Journal:  Nat Genet       Date:  2017-01-09       Impact factor: 38.330

3.  [Genetics of congenital aniridia].

Authors:  C Neuhaus; C Betz; C Bergmann; H J Bolz
Journal:  Ophthalmologe       Date:  2014-12       Impact factor: 1.059

Review 4.  Aniridia.

Authors:  Melanie Hingorani; Isabel Hanson; Veronica van Heyningen
Journal:  Eur J Hum Genet       Date:  2012-06-13       Impact factor: 4.246

5.  Regulation of cerebral cortical neurogenesis by the Pax6 transcription factor.

Authors:  Martine N Manuel; Da Mi; John O Mason; David J Price
Journal:  Front Cell Neurosci       Date:  2015-03-10       Impact factor: 5.505

6.  Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.

Authors:  Brett Deml; Linda M Reis; Emmanuelle Lemyre; Robin D Clark; Ariana Kariminejad; Elena V Semina
Journal:  Eur J Hum Genet       Date:  2015-07-01       Impact factor: 4.246

Review 7.  The genetics of aniridia - simple things become complicated.

Authors:  Anna Wawrocka; Maciej R Krawczynski
Journal:  J Appl Genet       Date:  2018-02-19       Impact factor: 3.240

8.  Phenotypic Variation in a Four-Generation Family with Aniridia Carrying a Novel PAX6 Mutation.

Authors:  Grace M Wang; Lev Prasov; Hayder Al-Hasani; Colin E R Marrs; Sahil Tolia; Laurel Wiinikka-Buesser; Julia E Richards; Brenda L Bohnsack
Journal:  J Ophthalmol       Date:  2018-04-04       Impact factor: 1.909

9.  Mutation analysis of paired box 6 gene in inherited aniridia in northern China.

Authors:  Peng Chen; Xinjie Zang; Dapeng Sun; Ye Wang; Yao Wang; Xiaowen Zhao; Mohan Zhang; Lixin Xie
Journal:  Mol Vis       Date:  2013-05-30       Impact factor: 2.367

Review 10.  The genetic architecture of aniridia and Gillespie syndrome.

Authors:  Hildegard Nikki Hall; Kathleen A Williamson; David R FitzPatrick
Journal:  Hum Genet       Date:  2018-09-22       Impact factor: 4.132
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