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Article

A Novel Deep Intronic Variant in NSD1 Causing Sotos Syndrome.

American journal of medical genetics. Part A - 1 Aug 2025

Parra Alejandro, Cazalla Mario, Jimenez-Estrada Juan A, Silván Cristina, Miranda-Alcaraz Lucía, Gallego-Zazo Natalia, Mora-Gómez Mónica, Rodríguez-Canó Manuel, Arias Pedro, Rodríguez-Antolín Carlos, Nevado Julián, Ruiz Pérez Víctor Luis, Tenorio-Castano Jair, Lapunzina Pablo

Abstract excerpt

We 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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 40178140
DOI: 10.1002/ajmg.a.64074

Genes

NSD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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