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Review Article | DOI: https://doi.org/IJPHRE-RW-26-08

The Role of Genetic Mutations in NSD2 Gene on the Rauch-Steindl syndrome (RAUST)

Shahin Asadi *

Medical Genetics Director of the Division of Medical Genetics and Molecular Pathology Research. Division of Medical Genetics and Molecular Pathology Research, Center of Complex Disease, U.S.A

*Corresponding Author: Shahin Asadi, Medical Genetics Director of the Division of Medical Genetics and Molecular Pathology Research. Division of Medical Genetics and Molecular Pathology Research, Center of Complex Disease, U.S.A.

Citation: Shahin Asadi (2026). The Role of Genetic Mutations in NSD2 Gene on the Rauch-Steindl syndrome (RAUST), J International Journal of Public Health Research and Epidemiology; 2 (2) 48, DOI: IJPHRE-RW-26-08

Copyright: Shahin Asadi, et al © (2026). This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Received: 10 March 2026 | Accepted: 18 March 2026 | Published: 30 March 2026

Keywords: rauch-steindl syndrome (RAUST); genetic disorder; NSD2 gene

Abstract

Rauch-Steindl syndrome (RAUST) is caused by a heterozygous mutation in the NSD2 gene on chromosome 4p16. Rauch-Steindl syndrome (RAUST) is characterized by poor growth before and after birth, sometimes with short stature and small head circumference, marked dysmorphic facial features, and variable developmental delay with delays in motor and speech learning and intellectual impairment that can be mild. Other features may include hypotonia and behavioral abnormalities. The phenotype reflects a mild form of Wolff-Hirschhorn syndrome (WHS), a contiguous gene deletion syndrome caused by heterozygous deletion of multiple genes on chromosome 4p16. Heterozygous mutations in the NSD2 gene identified in RAUST patients by Lozier et al. (2018), Derar et al. (2019), and Barry et al. (2019) occurred de novo. Most of the heterozygous mutations in the NSD2 gene identified in RAUST patients by Zanoni et al. (2021) occurred de novo.

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