Alejandro Parra, Mario Cazalla, Juan A. Jimenez-Estrada, Cristina Silván, Lucía Miranda-Alcaraz, Natalia Gallego-Zazo, Mónica Mora-Gómez, Manuel Rodríguez-Canó, Pedro Arias, Carlos Rodríguez-Antolín, Julián Nevado, Víctor Luis Ruiz Pérez, Jair Tenorio-Castano, Pablo Lapunzina
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A Novel Deep Intronic Variant in NSD1 Causing Sotos Syndrome
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 cases with clear clinical phenotypes and the emerging role of methylation profiling as a diagnostic tool in individuals where conventional approaches failed.
期刊介绍：
The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts:
Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders.
Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .
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