A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay
Publication
, Journal Article
Laboy Cintron, D; Muir, AM; Scott, A; McDonald, M; Monaghan, KG; Santiago-Sim, T; Wentzensen, IM; De Luca, C; Brancati, F; Harris, DJ ...
Published in: Human Genetics and Genomics Advances
January 13, 2022
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 the actin-related protein (ARP2/3) complex, which catalyzes the formation of F-actin networks. We show that the recurrent ARPC4 missense change is associated with a decreased amount of F-actin in cells from two affected individuals. Taken together, our results implicate heterozygous ARPC4 missense variants as a cause of neurodevelopmental disorders and microcephaly.
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Published In
Human Genetics and Genomics Advances
DOI
EISSN
2666-2477
Publication Date
January 13, 2022
Volume
3
Issue
1
Related Subject Headings
- 3105 Genetics
Citation
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Laboy Cintron, D., Muir, A. M., Scott, A., McDonald, M., Monaghan, K. G., Santiago-Sim, T., … Mefford, H. C. (2022). A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay. Human Genetics and Genomics Advances, 3(1). https://doi.org/10.1016/j.xhgg.2021.100072
Laboy Cintron, D., A. M. Muir, A. Scott, M. McDonald, K. G. Monaghan, T. Santiago-Sim, I. M. Wentzensen, et al. “A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay.” Human Genetics and Genomics Advances 3, no. 1 (January 13, 2022). https://doi.org/10.1016/j.xhgg.2021.100072.
Laboy Cintron D, Muir AM, Scott A, McDonald M, Monaghan KG, Santiago-Sim T, et al. A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay. Human Genetics and Genomics Advances. 2022 Jan 13;3(1).
Laboy Cintron, D., et al. “A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay.” Human Genetics and Genomics Advances, vol. 3, no. 1, Jan. 2022. Scopus, doi:10.1016/j.xhgg.2021.100072.
Laboy Cintron D, Muir AM, Scott A, McDonald M, Monaghan KG, Santiago-Sim T, Wentzensen IM, De Luca C, Brancati F, Harris DJ, Goueli C, Stottmann R, Prada CE, Biderman Waberski M, Mefford HC. A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay. Human Genetics and Genomics Advances. 2022 Jan 13;3(1).
Published In
Human Genetics and Genomics Advances
DOI
EISSN
2666-2477
Publication Date
January 13, 2022
Volume
3
Issue
1
Related Subject Headings
- 3105 Genetics