Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.

doi:10.1038/ng1517

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Article

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.

Nature genetics - 1 Mar 2005

Aligianis Irene A, Johnson Colin A, Gissen Paul, Chen Dongrong, Hampshire Daniel, Hoffmann Katrin, Maina Esther N, Morgan Neil V, Tee Louise, Morton Jenny, Ainsworth John R, Horn Denise, Rosser Elisabeth, Cole Trevor R P, Stolte-Dijkstra Irene, Fieggen Karen, Clayton-Smith Jill, Mégarbané André, Shield Julian P, Newbury-Ecob Ruth, Dobyns William B, Graham John M, Kjaer Klaus W, Warburg Mette, Bond Jacqueline, Trembath Richard C, Harris Laura W, Takai Yoshimi, Mundlos Stefan, Tannahill David, Woods C Geoffery, Maher Eamonn R

Abstract excerpt

Warburg Micro syndrome (WARBM1) is a severe autosomal recessive disorder characterized by developmental abnormalities of the eye and central nervous system and by microgenitalia. We identified homozygous inactivating mutations in RAB3GAP, encoding RAB3 GTPase activating protein, a key regulator of the Rab3 pathway implicated in exocytic release of neurotransmitters and hormones, in 12 families with Micro...

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PMID: 15696165
DOI: 10.1038/ng1517

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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