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X-Linked Intellectual Disability, a Novel Kdm5c Variation: A Case Report Publisher



Ms Sotoudehanvari Maryam SOTUDEH ; S Abedidoust SAMANEH ; G Ghasempour Dabaghi GHAZAL
Authors

Source: Iranian Journal of Pediatrics Published:2024


Abstract

The Lysine Demethylase 5C gene (KDM5C), located at 11p22, is a crucial gene implicated in X-linked intellectual Introduction: (ID), also known as Claes Jensen syndrome. Mutations in the KDM5C gene can negatively impact H3K4me2/3 disability leading to a significant reduction in brain-derived neurotrophic factor (BDNF) and sodium voltage-gated modifications, alpha subunit 2 (SCN2A), which are associated with both autistic spectrum disorder (ASD) and cognitive impairment. channel Presentation: This study presents a novel KDM5C mutation [rs1569278313, Xp.11.22 (GRCh37); c.807delC exon7/25; Pro269fs], Case frameshift deletion at the N terminus in exon 7, in a 7-year-old boy with a history of hypothyroidism and left-hand polydactyly. a primary complaints included seizures, short stature, speech difficulties, restlessness, gait problems, and ID. A brain The tomography (CT) scan was normal, while magnetic resonance imaging (MRI) revealed bilateral cerebellar computerized gene. KDM5C This case features a frameshift deletion in exon 7 of the KDM5C gene, manifesting as a syndromic face, short Conclusions: and global developmental delay. Additionally, we discuss the rare KDM5C syndromic features in this patient, providing stature, insight into the pathogenicity and clinical implications of this mutation. valuable atrophy. Multifocal epileptic discharges were observed in the electroencephalogram (EEG), and the auditory hemisphere response (ABR) was unremarkable. whole exome sequencing (WES) identified a pathogenic frameshift deletion in the brainstem © 2025 Elsevier B.V., All rights reserved.
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