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

Mahmoud Gad,Tareq Qassem,Walid Nasr

doi:10.1192/bjo.2021.338

Abstract

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

Highlights

ObjectiveThis 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
The reason to share this case is to high light the lack of resources in mental health services which can delay the provision of appropriate care and this can have negative impact on child health outcomes

Summary

Objective

The reason to share this case is to high light the lack of resources in mental health services which can delay the provision of appropriate care and this can have negative impact on child health outcomes. He had to be restrained multiple times He started to use wooden chair as a weapon, threatened to harm others and threatened to urinate on staff. Mental health act assessment was completed and when a decision was reached that detention under the mental health act was appropriate, no appropriate bed was available He was transferred to an inpatient CAMHS unit which was commissioned for children over 12 years of age. At a later date mental health tribunal panel upheld the section After few days he was transferred to an age appropriate in-patient mental health bed.