Identification of de novo variants in KCTD10 as a proposed cause for multiple congenital anomalies

Identification of de novo variants in KCTD10 as a proposed cause for multiple congenital anomalies

Summary: To date, the KCTD10 gene (MIM: 608726) has not been definitively associated with a human disease, although studies in animal models suggest that it plays a role in embryonic development. We have identified multiple unrelated individuals with de novo missense variants and overlapping phenoty...

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Main Authors: Michelle M. Morrow, Erin Torti, Bobbi McGivern, Ryan Gates, Mir Reza Bekheirnia, Nasim Bekheirnia, Leandra Folk, Shannon Holtrop, Timothy Blake Palculict, Olivia L. Redlich, Adi Reich, Maria J. Guillen Sacoto, Lisong Shi, Ingrid M. Wentzensen, Kirsty McWalter
Format: Article
Language:English
Published: Elsevier 2025-07-01
Series:HGG Advances
Subjects:
KCTD10
clinical exome sequencing
congenital heart defects
cardiac anomalies
congenital anomalies
candidate gene
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247725000296
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