Case Report: A de novo NSD2 multiple exon deletion variant in a child with Rauch-Steindl syndrome

Description

Chanchan Li, Mingyu Xie, Qi Peng, Xiaomei Lu, and Baimao Zhong report a new gene change in a child with Rauch-Steindl syndrome, a rare condition. Their case report was published in twenty twenty-six. The syndrome stems from faults in a gene called NSD2 and looks like a milder form of a related condition, Wolf-Hirschhorn syndrome.

Gene testing of the six-year-old Chinese boy found a fresh deletion that removed many parts of the NSD2 gene at once. The boy had unusual facial traits, slow speech, broad learning delay, autism, and weak muscle tone. The change had not been seen before, so it widens the known list of NSD2 faults. The authors say gene testing gives a firmer diagnosis for such children than signs alone.

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Source: https://europepmc.org/articles/PMC13220774