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Article

A milder form of NSRP1-associated neurodevelopmental disorder, caused by a missense variant in the nuclear localization signal.

American journal of medical genetics. Part A - 1 Oct 2024

Neuens Sebastian, Kausar Maiza, Kang Sun-Kyoung, Soblet Julie, Van Dooren Sonia, Olsen Catharina, Janssen Toon, Caljon Ben, Jun Chang-Duk, Smits Guillaume, Coppens Sandra, Vilain Catheline

Abstract excerpt

Nuclear Speckle Splicing Regulator Protein 1 (NSRP1) is a splice factor found in nuclear speckles, which are small membrane-free organelles implicated in epigenetic regulation, chromatin organization, DNA repair, and RNA modification. Bi-allelic loss-of-function variants in NSRP1 have recently been identified in patients suffering from a severe neurodevelopmental disorder, presenting with neurodevelopmental...

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PMID: 38808951
DOI: 10.1002/ajmg.a.63727

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