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Article

Expanding the clinical and molecular spectrum of SETD5, NEDD4L, and TBL1X related disorders: A case report and literature review.

Gene - 5 Dec 2026

Cassone Marco, Moschella Antonino, Mei Davide, Costa Asia, Garro Antonella

Abstract excerpt

We report a unique clinical case of a male child presenting with a blended phenotype characterized by intellectual disability, seizures, periventricular nodular heterotopia (PVNH), congenital central hypothyroidism, and multiorgan malformations. Exome sequencing (ES) identified three rare variants: a de novo frameshift variant in SETD5 (g.3-9441593 ;NM_001080517.3:c.812dup; p.(Leu271PhefsTer42)), a de novo...

Read the complete abstract on PubMed

Topics

Humans
Male
Nedd4 Ubiquitin Protein Ligases
Transducin

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Histone-Lysine N-Methyltransferase

Intellectual Disability

Phenotype

Exome Sequencing

Source

Identifiers

PMID: 42595145
DOI: 10.1016/j.gene.2026.150353

Genes

NEDD4L
SETD5
TBL1X

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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