Dataset Information

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.

SUBMITTER: Gregoric Kumperscak H

PROVIDER: S-EPMC5580054 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature

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

Gregoric Kumperscak Hojka H Krgovic Danijela D Vokac Nadja Kokalj NK

The Journal of international medical research 20160125 2

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. T ...[more]

PMID: 26811410

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Project description:ObjectivesThe current study examined predictors of outcomes of internet-based cognitive-behavioural therapy (ICBT) for individuals with tinnitus.DesignSecondary analysis of intervention studies.SettingInternet-based guided tinnitus intervention provided in the UK.Participants228 individuals who underwent ICBT.InterventionsICBT.Primary and secondary outcome measuresThe key predictor variables included demographic, tinnitus, hearing-related and treatment-related variables as well as clinical factors (eg, anxiety, depression, insomnia), which can have an impact on the treatment outcome. A 13-point reduction in Tinnitus Functional Index (TFI) scores has been defined as a successful outcome.ResultsOf the 228 subjects who were included in the study, 65% had a successful ICBT outcome. As per the univariate analysis, participants with a master's degree or above had the highest odds of having a larger reduction in tinnitus severity (OR 3.47; 95% CI 1.32 to 12.51), compared with the participants who had education only up to high school or less. Additionally, the baseline tinnitus severity was found to be a significant variable (OR 2.65; 95% CI 1.50 to 4.67) contributing to a successful outcome with the intervention. Both linear and logistic regression models have identified education level and baseline tinnitus severity to be significant predictor variables contributing to a reduction in tinnitus severity post-ICBT. As per the linear regression model, participants who had received disability allowance had shown a 25.3-point lower TFI reduction compared with those who did not experience a decrease in their workload due to tinnitus after adjusting for baseline tinnitus severity and their education level.ConclusionsPredictors of intervention outcome can be used as a means of triaging patients to the most suited form of treatment to achieve optimal outcomes and to make healthcare savings. Future studies should consider including a heterogeneous group of participants as well as other predictor variables not included in the current study.ClinicalTrial.gov Registration: NCT02370810 (completed); NCT02665975 (completed).

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Dataset Information

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

Publications

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

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