Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants.

ABSTRACT:

Background

Inactivating NSD1 mutations causing Sotos syndrome have been previously associated with a specific genome-wide DNA methylation (DNAm) pattern. Sotos syndrome is characterized by phenotypic overlap with other overgrowth syndromes, and a definite diagnosis might not be easily reached due to the high prevalence of variants of unknown significance (VoUS) that are identified in patients with a suggestive phenotype.

Objective

we performed microarray DNAm profiling in a set of 11 individuals with a clinical suspicion of Sotos syndrome and carrying an NSD1 VoUS or previously unreported variants to solve uncertainty in defining pathogenicity of the observed variants. The impact of the training cohort size on sensitivity and prediction confidence of the classi

SUBMITTER: Ferilli M 

PROVIDER: S-EPMC9690023 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature