Abstract
A familial q21.1q23.2-inversion on chromosome 14 that co-segregated with spherocytosis and learning difficulties or mild mental retardation was extensively investigated by bacterial artificial chromosome fluorescence in situ hybridization and array-comparative genomic hybridization. As expected, a deletion of the beta-spectrin gene SPTB, a known cause of spherocytosis, was found. More unexpectedly, this deletion was approximately 1.6 Mb distal to the 14q23.2-inversion breakpoint. The deletion spanned approximately 2.1 Mb and contained 15 annotated genes in addition to SPTB, among them PLEKHG3, a guanide nucleotide exchange factor for Rho GTPases. This gene is highly expressed in the brain and our best candidate for causing the mild mental retardation. The case illustrates that inversions can be associated with microdeletions close to but not including one of the inversion breakpoints.
References
Jan 1, 1990·Cytogenetics and Cell Genetics·Y FukushimaT B Shows
Apr 1, 1997·Journal of Medical Genetics·T SasakiN Niikawa
Apr 29, 1998·American Journal of Medical Genetics·K M Keppler-NoreuilR J Leach
Jan 15, 1999·Blood Cells, Molecules & Diseases·P G Gallagher, B G Forget
Oct 4, 2000·Nature Genetics·K KutscheA Gal
Jan 12, 2001·Molecular and Cellular Biology·T A Baudino, J L Cleveland
Feb 24, 2001·American Journal of Medical Genetics·I Lorda-SanchezC Ayuso
Mar 17, 2001·American Journal of Medical Genetics·P FinelliL Larizza
Feb 13, 2002·American Journal of Medical Genetics·K Madan, A W M Nieuwint
Nov 19, 2004·American Journal of Human Genetics·Dirk A Kleinjan, Veronica van Heyningen
Jan 7, 2005·Journal of Medical Genetics·S M GribbleN P Carter
Apr 19, 2005·Human Genetics·Ying YueThomas Haaf
May 11, 2005·Journal of Neurobiology·Sarah E NeweyLinda Van Aelst
Feb 14, 2006·American Journal of Medical Genetics. Part a·Marie Baekvad-HansenLars A Larsen
Jun 10, 2006·European Journal of Medical Genetics·Giovanna PiovaniSergio Barlati
Nov 15, 2006·American Journal of Medical Genetics. Part a·Sarah T SouthZhong Chen
Nov 16, 2007·Pflügers Archiv : European journal of physiology·Nael Nadif Kasri, Linda Van Aelst
Citations
Jan 22, 2009·European Journal of Human Genetics : EJHG·Helle LybaekGunnar Houge
Jul 22, 2010·Molecular Syndromology·D R H de BruijnG Houge
Aug 13, 2009·Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology·Elisabeth M LodderEsther de Graaff
May 11, 2010·Tidsskrift for den Norske lægeforening : tidsskrift for praktisk medicin, ny række·Olaug K RødningenGunnar Houge
Oct 27, 2015·Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies·Nuno R ZilhãoDorret I Boomsma
Aug 29, 2009·Pediatric Annals·Lisa G Shaffer, Bassem A Bejjani
Mar 2, 2011·Autism Research : Official Journal of the International Society for Autism Research·Anthony J GriswoldMargaret A Pericak-Vance
Mar 26, 2014·American Journal of Medical Genetics. Part a·Daphné LehalleJeanne Amiel
Dec 17, 2014·Nature Communications·Vojč Kocman, Janez Plavec
Feb 23, 2020·Journal of Pediatric Hematology/oncology·Elena Panizo MorgadoÁurea Cervera Bravo
Mar 25, 2019·International Journal of Hematology·Woori JangYonggoo Kim
Feb 24, 2021·Molecular Genetics & Genomic Medicine·Fei XieJinjin Jiang