title: Specific behavioural phenotype and secondary cognitive decline as a result of an 8.6 Mb deletion of 2q32.2q33.1.
abstract: Chromosomal abnormalities involving 2q32q33 deletions are very rare and present with a specific phenotype. This case report describes a 37-year-old female patient with 2q32q33 microdeletion syndrome presenting with the characteristic features, but with the addition of secondary cognitive decline. Molecular karyotyping was performed on the patient and her parents. It revealed an 8.6 megabase deletion with the proximal breakpoint in the chromosome band 2q32.2 and the distal breakpoint in 2q33.1. The deletion encompassed 22 known genes, including theGLS,MYO1B,TMEFF2,PGAP1andSATB2genes. The observed deletion was confirmed using a paralogue ratio test. This case report provides further evidence that theSATB2gene, together withGLS,MYO1B,TMEFF2and possiblyPGAP1,is a crucial gene in 2q32q33 microdeletion syndrome. TheSATB2gene seems to be crucial for the behavioural problems noted in our case, but deletion of theGLS,MYO1BandTMEFF2genes presumably contributed to the more complex behavioural characteristics observed. Our patient is also, to our knowledge, the only patient with 2q32q33 microdeletion syndrome with secondary cognitive decline.
authors.affiliation: Paediatrics Clinic, University Clinical Centre Maribor, Maribor, Slovenia hojka.gregoric@guest.arnes.si.
authors.forename: Hojka
authors.initials: H
authors.lastname: Gregoric Kumperscak
authors.affiliation: University of Maribor, Faculty of Medicine, Maribor, Slovenia.
authors.forename: Danijela
authors.initials: D
authors.lastname: Krgovic
authors.affiliation: University of Maribor, Faculty of Medicine, Maribor, Slovenia and Laboratory of Medical Genetics, University Clinical Centre Maribor, Maribor, Slovenia.
authors.forename: Nadja Kokalj
authors.initials: NK
authors.lastname: Vokac
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D000328:Adult; D000374:Aggression / Q000523:psychology*; D056905:Chromosome Breakpoints; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D060825:Cognitive Dysfunction / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005972:Glutaminase / Q000172:deficiency / Q000235:genetics; D006801:Humans; D007046:Hysteria / Q000503:physiopathology* / Q000523:psychology; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D007621:Karyotyping; D036961:Matrix Attachment Region Binding Proteins / Q000172:deficiency / Q000235:genetics; D008565:Membrane Proteins / Q000172:deficiency / Q000235:genetics; D024461:Myosin Type I / Q000172:deficiency / Q000235:genetics; D009363:Neoplasm Proteins / Q000172:deficiency / Q000235:genetics; D010641:Phenotype; D010744:Phosphoric Monoester Hydrolases / Q000172:deficiency / Q000235:genetics; D016728:Self-Injurious Behavior / Q000503:physiopathology* / Q000523:psychology; D014157:Transcription Factors / Q000172:deficiency / Q000235:genetics
chemical_list: C000594736:MYO1B protein, human; D036961:Matrix Attachment Region Binding Proteins; D008565:Membrane Proteins; D009363:Neoplasm Proteins; C521297:SATB2 protein, human; C423567:TMEFF2 protein, human; D014157:Transcription Factors; C484857:PGAP1 protein, human; D010744:Phosphoric Monoester Hydrolases; C579480:GLS protein, human; D005972:Glutaminase; D024461:Myosin Type I
keywords: 2q32q33 microdeletion syndrome; SATB2 gene; behavioural problems; developmental delay; secondary cognitive decline
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