Literature DB >> 23999105

Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene.

Baran Bayindir1, Elena Piazza, Erika Della Mina, Ivan Limongelli, Francesca Brustia, Roberto Ciccone, Pierangelo Veggiotti, Orsetta Zuffardi, Mohammed Reza Dehghani.   

Abstract

We present a patient affected by Dravet syndrome. Thorough analysis of genes that might be involved in the pathogenesis of such phenotype with both conventional and next generation sequencing resulted negative, therefore she was investigated by a-GCH that showed the presence of an unbalanced translocation resulting in a der(4)t(4;8)(p16.3,p23.3). This was an unconventional translocation, different from the recurrent translocation affiliated with WHS and did not involve LETM1.
Copyright © 2013 Elsevier Masson SAS. All rights reserved.

Entities:  

Keywords:  Dravet syndrome; WHS; der(4)t(4;8)(p16.3,p23.3)

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Substances：

Year:  2013        PMID： 23999105     DOI： 10.1016/j.ejmg.2013.08.003

Source DB:  PubMed          Journal:  Eur J Med Genet        ISSN： 1769-7212            Impact factor:   2.708


  6 in total

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4.  LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition.

Authors:  Lesley Hart; Anita Rauch; Antony M Carr; Joris R Vermeesch; Mark O'Driscoll
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6.  Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome.

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  6 in total

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