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An unregistered TARDBP mutation in a case presenting with young-onset dementia

Published online by Cambridge University Press:  18 June 2021

Mahmoud Gad ,
Walid Nasr  and
Tareq Qassem
Mahmoud Gad*
Affiliation:
Al-Amal Hospital, Ministry of Health and Prevention
Walid Nasr
Affiliation:
Al-Amal Hospital, Ministry of Health and Prevention
Tareq Qassem
Affiliation:
Maudsley Health, Al-Amal Hospital, Ministry of Health and Prevention, Mohammed Bin Rashid University Of Medicine and Health Sciences, Institute of Psychiatry, Ain Shams University
*
*corresponding author.
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Abstract

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Objective

This poster aims to report an unregistered mutation in Transactive Response DNA Binding Protein (TARDBP) gene in a patient presenting young-onset dementia.

Hypothesis: Novel heterozygous mutation in the TARDBP gene is linked to a case of with young-onset dementia.

Background

Pathogenic variants in TARDBP cause autosomal dominant fronto-temporal degeneration, characterized by TDP43-positive inclusions, dystonia, dyslexia, receptive dysphasia, and paraphrasic errors. In addition to the neurocognitive deficits, patients might suffer from cardiomyopathy and amyotrophic lateral sclerosis.

Case report

Molecular genetic analysis of whole-exome sequencing (WES) was carried out for a 45-year-old male patient presenting with cognitive decline and behavioural symptoms.

Discussion

WES Identified the heterozygous variant c.527A > T p.(Lys 176lle) in TARDBP gene. To the best of our knowledge the variant has not been described in the literature so far (HGMD 2019.3). No allele frequencies in the general population have been documented.

Conclusion

We believe that we have identified a novel mutation in the TARDBP gene. This mutation is likely to be linked to this patient presenting with young-onset dementia.

Type
Case Study
Information
BJPsych Open , Volume 7 , Supplement S1: Abstracts of the RCPsych Virtual International Congress 2021, 21–24 June , June 2021 , pp. S116
Creative Commons
Creative Common License - CCCreative Common License - BY
This is an Open Access article, distributed under the terms of the Creative Commons Attribution licence (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted re-use, distribution, and reproduction in any medium, provided the original work is properly cited.
Copyright
Copyright © The Author(s), 2021. Published by Cambridge University Press on behalf of the Royal College of Psychiatrists
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