Intellectual disability (ID) is a pathological condition characterized by limited intellectual
functioning and adaptive behaviors. It affects 1–3% of the worldwide population, and no …

Abstract Proteins of the Wiskott-Aldrich syndrome protein (WASP) family play a central role
in regulating actin cytoskeletal dynamics in a wide range of cellular processes. Genetic …

Mutation of the Wiskott–Aldrich syndrome protein and SCAR homology (WASH) complex
subunit, SWIP, is implicated in human intellectual disability, but the cellular etiology of this …

Purpose The Retriever subunit VPS35L is the third responsible gene for Ritscher-Schinzel
syndrome (RSS) after WASHC5 and CCDC22. To date, only one pair of siblings have been …

Purpose Wide access to clinical exome/genome sequencing (ES/GS) enables the
identification of multiple molecular diagnoses (MMDs), being a long-standing but …

For decades, recycling of membrane proteins has been represented in figures by arrows
between the “endosome” and the plasma membrane, but recently there has been an …

Recessive variants in WASHC4 are linked to intellectual disability complicated by poor
language skills, short stature, and dysmorphic features. The protein encoded by WASHC4 is …

Background: Hereditary spastic paraplegia (HSP) is a progressive upper-motor
neurodegenerative disease. Mutations in the WASHC5 gene are associated with autosomal …

Pathogenic variants in CCDC22 were initially described in 2012 in a large Australian family
with intellectual disability and were subsequently noted to cause a phenotype consistent …

Background: FERM domain-containing protein 4A (FRMD4A) is a scaffolding protein
previously proposed to be critical in the regulation of cell polarity in neurons and implicated …