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Article

Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility.

American journal of human genetics - 2 Apr 2026

AlAbdi Lama, Sezer Abdullah, Alzahrani Fatema, Cevik Sebiha, Demir Zanyar, Abdullah Nor Linda, Durukan Özlem, Dallı Efe, Hashem Mais O, Abuyousef Omar, Aljamal Bayan, Helaby Rana, Radwan Mona, Jaafar Amal, Alshidi Tarfa, Salem Israa, Hamid Halima, Alhaddad Bader, Bakur Khadijah, Taşdelen Elifcan, Kılıç Mustafa, Al-Owain Mohammed, Alhashem Amal, Bratland Eirik, Paulsen Julie, Houge Douzgos Gunnar, Politi Anya Revah, Uguen Kevin, Masson Emmanuelle, Audebert Severine, AlAnzi Talal, Arold Stefan T, Ergin Bora, Ibrahim Leena A, Kaplan Oktay I, Alkuraya Fowzan S

Abstract excerpt

Cytoskeletal organization, cell adhesion, and cell motility are key to neuronal development and functional synapses. Obg-like ATPase 1 (OLA1) regulates cell-matrix adhesion by modulating focal adhesion kinase (FAK) levels, therefore regulating cytoskeletal dynamics and cell motility. To date, however, no Mendelian phenotypes in humans have been linked to OLA1. We identified fourteen individuals from nine families...

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Caenorhabditis elegans
Cell Adhesion
Cell Movement

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Ehlers-Danlos Syndrome

Joint Instability

Neurodevelopmental Disorders

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Identifiers

PMID: 41887223
DOI: 10.1016/j.ajhg.2026.03.001
PMCID: PMC13087460

Genes

OLA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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