一种新的NSD1深层内含子变异导致Sotos综合征。

IF 1.7 4区生物学 Q3 GENETICS & HEREDITY

American Journal of Medical Genetics Part A Pub Date : 2025-04-03 DOI:10.1002/ajmg.a.64074

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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引用次数: 0

摘要

我们报告了一位女性患者，通过全基因组测序（WGS）检测到NSD1新发深部内含子变异。RNA-seq显示了一个新的外显子的产生（外显子化），甲基化分析显示了一个与Sotos综合征患者重叠的外显子模式，这些患者具有明确的致病性NSD1变异体，证实了Sotos综合征的诊断。该患者强化了WGS在具有明确临床表型的病例中的重要性，以及甲基化谱在传统方法失败的个体中作为诊断工具的新兴作用。

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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.

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来源期刊

American Journal of Medical Genetics Part A 生物-遗传学

CiteScore

3.50

自引率

5.00%

发文量

432

审稿时长

2-4 weeks

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 .