Clinical Report: Novel De Novo Deletion of Multiple Exons in NSD2 Identified

Overview

Enhance the explanation of how this deletion contributes to the understanding of NSD2's role in neurodevelopmental disorders.

Background

Rauch-Steindl syndrome (RAUST) is a rare genetic disorder linked to mutations in the NSD2 gene, presenting with developmental delays and dysmorphic features. Understanding RAUST is crucial as it shares similarities with Wolf-Hirschhorn syndrome but generally exhibits a milder phenotype. Accurate genetic diagnosis through methods like whole-exome sequencing can aid in identifying such conditions and informing patient management.

Data Highlights

No numerical data or trial data available in the article.

Key Findings

Clinical Implications

Clinicians should consider genetic testing for patients presenting with developmental delays and dysmorphic features to identify potential cases of Rauch-Steindl syndrome. Understanding the genetic basis of RAUST can guide management and support for affected families.

Conclusion

The identification of a novel NSD2 deletion in this case enhances the understanding of Rauch-Steindl syndrome and underscores the importance of genetic testing in neurodevelopmental disorders.

Related Resources & Content

1. NCBI, Gene, 2023 -- NSD2 nuclear receptor binding SET domain protein 2 [Homo sapiens (human)]
2. Genetics in Medicine, 2021 -- Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
3. Clinical details of individuals with Rauch–Steindl syndrome due to NSD2 truncating variants, DOAJ
4. The Journal of Clinical Endocrinology & Metabolism — NOC2L, a New LZTR1 Interactor, Influences the Pathogenesis of Noonan Syndrome by Disrupting P53 Signaling
5. Brain — Characterization of Clinical Features and Genetic Aspects of a Neurodevelopmental Disorder Linked to RBL2 Mutations
6. Acta Neuropathologica — Identification of a New NDEL1 Variant Linked to Lissencephaly Highlights the Unique Functions of NDE1 and NDEL1 in Nucleokinesis and Cortical Developmental Disorders
7. Acta Neuropathologica — Biallelic alterations in NRROS lead to a fatal microgliopathy with early onset
8. NSD2 nuclear receptor binding SET domain protein 2 [Homo sapiens (human)] - Gene - NCBI
9. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG) | Genetics in Medicine
10. Clinical details of individuals with Rauch–Steindl syndrome due to NSD2 truncating variants – DOAJ