A Novel Deep Intronic Variant in NSD1 Causing Sotos Syndrome
Copyright policy )A Novel Deep Intronic Variant in NSD1 Causing Sotos Syndrome
ABSTRACTWe report a female patient with a de novo deep intronic variant in NSD1 detected by whole genome sequencing (WGS). RNA‐seq revealed the creation of a novel exon (exonization), and methylation analysis showed an episignature pattern overlapping with Sotos syndrome patients with well‐established pathogenic NSD1 variants, confirming the diagnosis of Sotos syndrome. This patient reinforces the importance of WGS in cases with clear clinical phenotypes and the emerging role of methylation profiling as a diagnostic tool in individuals where conventional approaches failed.
Methylation pattern, Sotos Syndrome, Whole Genome Sequencing, Histone-Lysine N-Methyltransferase, Exons, DNA Methylation, NSD1, Introns, Phenotype, Whole genome sequencing, Mutation, Intronic variant, Humans, Female, RNA-seq, Episignature, Sotos syndrome
Methylation pattern, Sotos Syndrome, Whole Genome Sequencing, Histone-Lysine N-Methyltransferase, Exons, DNA Methylation, NSD1, Introns, Phenotype, Whole genome sequencing, Mutation, Intronic variant, Humans, Female, RNA-seq, Episignature, Sotos syndrome
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