Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay

Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay

Summary: The ARHGEF40 gene, also known as SOLO, encodes a RhoA-targeting guanine nucleotide exchange factor (GEF) and is currently considered a candidate gene with a potential relationship to disease. Our laboratory has confirmed variants at position p.Arg225 of the ARHGEF40 protein in multiple unre...

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Main Authors: Melanie P. Napier, Erin Ryan, Adi Reich, Joshua A. Suhl, Diane Masser-Frye, Marilyn Jones, Celese Beaudreau, Nathaniel Robin, Dana Goodloe, Leandra Folk, Michelle M. Morrow, Deanna Alexis Carere
Format: Article
Language:English
Published: Elsevier 2025-04-01
Series:HGG Advances
Subjects:
ARHGEF40
clinical exome sequencing
neurodevelopmental disorder
congenital anomalies
candidate gene
gene discovery
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247725000119
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