Literature DB >> 19165920

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.

Juliane Najm1, Denise Horn, Isabella Wimplinger, Jeffrey A Golden, Victor V Chizhikov, Jyotsna Sudi, Susan L Christian, Reinhard Ullmann, Alma Kuechler, Carola A Haas, Armin Flubacher, Lawrence R Charnas, Gökhan Uyanik, Ulrich Frank, Eva Klopocki, William B Dobyns, Kerstin Kutsche.   

Abstract

CASK is a multi-domain scaffolding protein that interacts with the transcription factor TBR1 and regulates expression of genes involved in cortical development such as RELN. Here we describe a previously unreported X-linked brain malformation syndrome caused by mutations of CASK. All five affected individuals with CASK mutations had congenital or postnatal microcephaly, disproportionate brainstem and cerebellar hypoplasia, and severe mental retardation.

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Year:  2008        PMID： 19165920     DOI： 10.1038/ng.194

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


  108 in total

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Review 2.  Novel approaches to studying the genetic basis of cerebellar development.

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3.  Human Neuropsychiatric Disease Modeling using Conditional Deletion Reveals Synaptic Transmission Defects Caused by Heterozygous Mutations in NRXN1.

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4.  Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

Authors:  Sabine Endele; Georg Rosenberger; Kirsten Geider; Bernt Popp; Ceyhun Tamer; Irina Stefanova; Mathieu Milh; Fanny Kortüm; Angela Fritsch; Friederike K Pientka; Yorck Hellenbroich; Vera M Kalscheuer; Jürgen Kohlhase; Ute Moog; Gudrun Rappold; Anita Rauch; Hans-Hilger Ropers; Sarah von Spiczak; Holger Tönnies; Nathalie Villeneuve; Laurent Villard; Bernhard Zabel; Martin Zenker; Bodo Laube; André Reis; Dagmar Wieczorek; Lionel Van Maldergem; Kerstin Kutsche
Journal:  Nat Genet       Date:  2010-10-03       Impact factor: 38.330

Review 5.  Autism spectrum disorder and epilepsy: Disorders with a shared biology.

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Journal:  Epilepsy Behav       Date:  2015-04-19       Impact factor: 2.937

Review 6.  The genetics of cerebellar malformations.

Authors:  Kimberly A Aldinger; Dan Doherty
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Journal:  Am J Physiol Renal Physiol       Date:  2011-01-12

Review 8.  Model organisms inform the search for the genes and developmental pathology underlying malformations of the human hindbrain.

Authors:  Kimberly A Aldinger; Gina E Elsen; Victoria E Prince; Kathleen J Millen
Journal:  Semin Pediatr Neurol       Date:  2009-09       Impact factor: 1.636

Review 9.  A developmental and genetic classification for midbrain-hindbrain malformations.

Authors:  A James Barkovich; Kathleen J Millen; William B Dobyns
Journal:  Brain       Date:  2009-12       Impact factor: 13.501

Review 10.  Lessons learnt from large-scale exon re-sequencing of the X chromosome.

Authors:  F Lucy Raymond; Annabel Whibley; Michael R Stratton; Jozef Gecz
Journal:  Hum Mol Genet       Date:  2009-04-15       Impact factor: 6.150
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