Specific behavioural phenotype and secondary cognitive decline as a result of an 8.6 Mb deletion of 2q32.2q33.1

Hojka Gregoric Kumperscak; Danijela Krgovic; Nadja Kokalj Vokac

doi:10.1177/0300060515595651

Specific behavioural phenotype and secondary cognitive decline as a result of an 8.6 Mb deletion of 2q32.2q33.1

J Int Med Res. 2016 Apr;44(2):395-402. doi: 10.1177/0300060515595651. Epub 2016 Jan 25.

Authors

Hojka Gregoric Kumperscak¹, Danijela Krgovic², Nadja Kokalj Vokac³

Affiliations

¹ Paediatrics Clinic, University Clinical Centre Maribor, Maribor, Slovenia hojka.gregoric@guest.arnes.si.
² University of Maribor, Faculty of Medicine, Maribor, Slovenia.
³ University of Maribor, Faculty of Medicine, Maribor, Slovenia and Laboratory of Medical Genetics, University Clinical Centre Maribor, Maribor, Slovenia.

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.

Keywords: 2q32q33 microdeletion syndrome; SATB2 gene; behavioural problems; developmental delay; secondary cognitive decline.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / diagnosis
Abnormalities, Multiple / genetics*
Abnormalities, Multiple / physiopathology
Adult
Aggression / psychology*
Chromosome Breakpoints
Chromosome Deletion
Chromosomes, Human, Pair 2 / genetics
Cognitive Dysfunction / diagnosis
Cognitive Dysfunction / genetics*
Cognitive Dysfunction / physiopathology
Female
Glutaminase / deficiency
Glutaminase / genetics
Humans
Hysteria / physiopathology*
Hysteria / psychology
Intellectual Disability / diagnosis
Intellectual Disability / genetics*
Intellectual Disability / physiopathology
Karyotyping
Matrix Attachment Region Binding Proteins / deficiency
Matrix Attachment Region Binding Proteins / genetics
Membrane Proteins / deficiency
Membrane Proteins / genetics
Myosin Type I / deficiency
Myosin Type I / genetics
Neoplasm Proteins / deficiency
Neoplasm Proteins / genetics
Phenotype
Phosphoric Monoester Hydrolases / deficiency
Phosphoric Monoester Hydrolases / genetics
Self-Injurious Behavior / physiopathology*
Self-Injurious Behavior / psychology
Transcription Factors / deficiency
Transcription Factors / genetics

Substances

MYO1B protein, human
Matrix Attachment Region Binding Proteins
Membrane Proteins
Neoplasm Proteins
SATB2 protein, human
TMEFF2 protein, human
Transcription Factors
PGAP1 protein, human
Phosphoric Monoester Hydrolases
GLS protein, human
Glutaminase
Myosin Type I

Supplementary concepts

Chromosome 2q32-Q33 Deletion Syndrome