Familial <i>NSD1</i> Exon 3 Deletion Associated with Phenotypic and Epigenetic Variability.

ABSTRACT:

Background

Germline pathogenic variants in NSD1 cause Sotos syndrome, a developmental disorder characterised by overgrowth, intellectual disability, macrocephaly, developmental anomalies, and, in some cases, tumour development. Familial cases of Sotos syndrome are rare and genotype-phenotype correlations are not well described. NSD1, a lysine-specific histone methyltransferase, is an important epigenetic regulator and pathogenic variants in NSD1 are associated with a distinctive blood DNA methylation pattern (episignature). We described a family with an NSD1 exon 3 deletion and an atypical clinical phenotype.

Methods

DNA episignature profiling was undertaken with a next generation sequencing-based approach.

Results

Within the family, the three aff

SUBMITTER: Lee SL 

PROVIDER: S-EPMC12563888 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature