De novo missense variants in CHTF18: The potential to expand the clinical spectrum of cohesinopathies

De novo missense variants in CHTF18: The potential to expand the clinical spectrum of cohesinopathies

Summary: Cohesin is a multiprotein complex that maintains chromosome integrity during cell division. Disruptions in cohesin or its regulators, including CHTF18, can lead to neurodevelopmental and congenital disorders known as cohesinopathies. CHTF18 participates in cohesin loading during DNA replica...

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Bibliographic Details
Main Authors: Erfan Aref-Eshghi, Ingrid M. Wentzensen, Tawfeg Ben-Omran, Reem Ibrahim Bux, Nina B. Gold, Erin McRoy, Hoanh Nguyen, Lauren O’Grady, Shao Ching Tu, Yanmin Chen, Leandra Folk, Bobbi McGivern
Format: Article
Language:English
Published: Elsevier 2025-10-01
Series:HGG Advances
Subjects:
cohesin
CHTF18
clinical exome sequencing
neurodevelopmental disorder
congenital anomalies
candidate gene
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247725000880
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