A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay

A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay

We report seven affected individuals from six families with a recurrent, de novo variant in the ARPC4 gene (c.472C>T [p.Arg158Cys (GenBank: NM_005718.4)]). Core features in affected individuals include microcephaly, mild motor delays, and significant speech impairment. ARPC4 is a core subunit of...

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Bibliographic Details
Main Authors: Biderman Waberski, M. (Author), Brancati, F. (Author), De Luca, C. (Author), Goueli, C. (Author), Harris, D.J (Author), Italian Undiagnosed Diseases Network (Author), Laboy Cintron, D. (Author), McDonald, M. (Author), Mefford, H.C (Author), Monaghan, K.G (Author), Muir, A.M (Author), Prada, C.E (Author), Santiago-Sim, T. (Author), Scott, A. (Author), Stottmann, R. (Author), Wentzensen, I.M (Author)
Format: Article
Language:English
Published: Cell Press 2022
Subjects:
actin
ARPC4
de novo
developmental delay
genetic
microcephaly
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