Dataset Information

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

ABSTRACT: 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.

SUBMITTER: Laboy Cintron D

PROVIDER: S-EPMC8756495 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

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

Laboy Cintron Dianne D Muir Alison M AM Scott Abbey A McDonald Marie M Monaghan Kristin G KG Santiago-Sim Teresa T Wentzensen Ingrid M IM De Luca Chiara C Brancati Francesco F Harris David J DJ Goueli Cecilia C Stottmann Rolf R Prada Carlos E CE Biderman Waberski Marta M Mefford Heather C HC

HGG advances 20211125 1

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-ac ...[more]

PMID: 35047857

Dataset Information

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

Publications

A recurrent, <i>de novo</i> pathogenic variant in <i>ARPC4</i> disrupts actin filament formation and causes microcephaly and speech delay.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets

Similar Datasets

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
| S-EPMC5630163 | biostudies-literature

Variants in PUS7 cause intellectual disability with speech delay, microcephaly, short stature, and aggressive behavior
2018-10-13 | GSE121177 | GEO

A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report.
| S-EPMC7499997 | biostudies-literature

A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay.
| S-EPMC10236379 | biostudies-literature

A pathogenic NR2F1 gene variant disrupts transcriptional activity and causes severe neurodevelopmental delay in Bosch-Boonstra-Schaaf syndrome.
| S-EPMC11871647 | biostudies-literature

Dendritic actin filament nucleation causes traveling waves and patches.
| S-EPMC2947330 | biostudies-literature

Actin filament alignment causes mechanical hysteresis in cross-linked networks.
| S-EPMC8192476 | biostudies-literature

Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior.
| S-EPMC6288278 | biostudies-literature

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
| S-EPMC5294886 | biostudies-literature

Haploinsufficiency for Core Exon Junction Complex Components Disrupts Embryonic Neurogenesis and Causes p53-Mediated Microcephaly.
| S-EPMC5019403 | biostudies-literature