A 2.1 Mb deletion adjacent but distal to a 14q21q23 paracentric inversion in a family with spherocytosis and severe learning difficulties

Clinical Genetics
Helle LybaekG Houge

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.

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Citations

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
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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
Dec 17, 2014·Nature Communications·Vojč Kocman, Janez Plavec
Feb 23, 2020·Journal of Pediatric Hematology/oncology·Elena Panizo MorgadoÁurea Cervera Bravo

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