Loss-of-function mutations in RAB18 cause Warburg micro syndrome.

doi:10.1016/j.ajhg.2011.03.012

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Article

Loss-of-function mutations in RAB18 cause Warburg micro syndrome.

American journal of human genetics - 8 Apr 2011

Bem Danai, Yoshimura Shin-Ichiro, Nunes-Bastos Ricardo, Bond Frances C, Bond Frances F, Kurian Manju A, Rahman Fatima, Handley Mark T W, Hadzhiev Yavor, Masood Imran, Straatman-Iwanowska Ania A, Cullinane Andrew R, McNeill Alisdair, Pasha Shanaz S, Kirby Gail A, Foster Katharine, Ahmed Zubair, Morton Jenny E, Williams Denise, Graham John M, Dobyns William B, Burglen Lydie, Ainsworth John R, Gissen Paul, Müller Ferenc, Maher Eamonn R, Barr Francis A, Aligianis Irene A

Abstract excerpt

Warburg Micro syndrome and Martsolf syndrome are heterogenous autosomal-recessive developmental disorders characterized by brain, eye, and endocrine abnormalities. Previously, identification of mutations in RAB3GAP1 and RAB3GAP2 in both these syndromes implicated dysregulation of the RAB3 cycle (which controls calcium-mediated exocytosis of neurotransmitters and hormones) in disease pathogenesis. RAB3GAP1 and...

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Identifiers

PMID: 21473985
DOI: 10.1016/j.ajhg.2011.03.012
PMCID: PMC3071920

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RAB18

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