Identification of disrupted AUTS2 and EPHA6 genes by array painting in a patient carrying a de novo balanced translocation t(3;7) with intellectual disability and neurodevelopment disorder

American Journal of Medical Genetics. Part a
Anouck SchneiderDavid Geneviève

Abstract

Intellectual disability (ID) is a frequent feature but is highly clinically and genetically heterogeneous. The establishment of the precise diagnosis in patients with ID is challenging due to this heterogeneity but crucial for genetic counseling and appropriate care for the patients. Among the etiologies of patients with ID, apparently balanced de novo rearrangements represent 0.6%. Several mechanisms explain the ID in patients with apparently balanced de novo rearrangement. Among them, disruption of a disease gene at the breakpoint, is frequently evoked. In this context, technologies recently developed are used to characterize precisely such chromosomal rearrangements. Here, we report the case of a boy with ID, facial features and autistic behavior who is carrying a de novo balanced reciprocal translocation t(3;7)(q11.2;q11.22)dn. Using microarray analysis, array painting (AP) technology combined with molecular study, we have identified the interruption of the autism susceptibility candidate 2 gene (AUTS2) and EPH receptor A6 gene (EPHA6). We consider that the disruption of AUTS2 explains the phenotype of the patient; the exact role of EPHA6 in human pathology is not well defined. Based on the observation of recurrent germinal...Continue Reading

References

Sep 15, 1998·Human Molecular Genetics·D J Kleinjan, V van Heyningen
Jul 29, 2000·Human Genetics·I Tapia-PáezJ P Dumanski
Apr 5, 2002·Genome Research·W James Kent
Sep 5, 2002·American Journal of Medical Genetics·Jean-Michel DupontMarc Jeanpierre
Sep 10, 2003·Journal of Medical Genetics·H FieglerN P Carter
Feb 27, 2004·Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology·S M GribbleN P Carter
Jun 15, 2004·Current Opinion in Neurobiology·Yu Yamaguchi, Elena B Pasquale
Aug 23, 2005·Brain Research. Brain Research Reviews·Albert Martínez, Eduardo Soriano
Jan 6, 2006·Human Genetics·Christine FauthMichael R Speicher
Jul 11, 2006·American Journal of Human Genetics·Tjitske KleefstraHans van Bokhoven
Aug 19, 2006·American Journal of Medical Genetics. Part a·Anita RauchUdo Trautmann
Jan 11, 2007·Human Genetics·Vera M KalscheuerReinhard Ullmann
Jan 9, 2008·American Journal of Human Genetics·Betul BakkalogluMatthew W State
May 3, 2008·Neuroscience Letters·Katerina V SavelievaThomas H Lanthorn
Aug 14, 2008·Proceedings of the National Academy of Sciences of the United States of America·Norihiko KawamataH Phillip Koeffler
Nov 19, 2008·PathoGenetics·Wenli GuJames R Lupski
Apr 22, 2009·European Journal of Medical Genetics·Marie-Reine HaddadLaurent Villard
Jun 30, 2009·Trends in Genetics : TIG·Feng ZhangJames R Lupski
Jul 15, 2009·Nature Reviews. Genetics·P J HastingsGrzegorz Ira
Dec 3, 2009·European Journal of Human Genetics : EJHG·Wei ChenHans-Hilger Ropers
Jul 17, 2010·American Journal of Medical Genetics. Part a·Xin-Li HuangJeff M Milunsky
Oct 19, 2010·American Journal of Human Genetics·Joseph T GlessnerStruan F A Grant
Oct 25, 2012·Development·Rüdiger Klein
Jun 12, 2013·Molecular Psychiatry·B V HooliR E Tanzi
Sep 7, 2013·Trends in Genetics : TIG·Nir Oksenberg, Nadav Ahituv
Feb 11, 2014·Molecular Cytogenetics·Dagmar DenkSabine Strehl
Oct 10, 2014·Journal of Human Genetics·Toshifumi SuzukiNaomichi Matsumoto

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