To identify genetic variants in the NSD2 gene associated with Rauch-Steindl syndrome (RAUST) using whole-exome sequencing.
Key Findings:
A novel de novo deletion spanning exons 6–22 of the NSD2 gene was identified.
The patient exhibited developmental delays, language retardation, facial dysmorphisms, autism, and hypotonia.
Clinical features were consistent with RAUST, differing from the more severe Wolf-Hirschhorn syndrome.
Interpretation:
The findings support the role of NSD2 haploinsufficiency in the pathogenesis of RAUST, highlighting its significance in clinical diagnosis and expanding the known mutational spectrum of NSD2.
Limitations:
The study is based on a single case, limiting generalizability.
Long-term follow-up data on the patient's development are not provided.
Further studies are needed to validate these findings across a larger cohort.
Conclusion:
This study highlights the importance of molecular genetic testing in diagnosing RAUST and contributes to understanding the phenotypic spectrum associated with NSD2 mutations, emphasizing its relevance in clinical practice.
