Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.

doi:10.1016/j.ajhg.2017.09.015

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Article

Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.

American journal of human genetics - 2 Nov 2017

Lamers Ideke J C, Reijnders Margot R F, Venselaar Hanka, Kraus Alison, Jansen Sandra, de Vries Bert B A, Houge Gunnar, Gradek Gyri Aasland, Seo Jieun, Choi Murim, Chae Jong-Hee, van der Burgt Ineke, Pfundt Rolph, Letteboer Stef J F, van Beersum Sylvia E C, Dusseljee Simone, Brunner Han G, Doherty Dan, Kleefstra Tjitske, Roepman Ronald

Abstract excerpt

The Rab GTPase family comprises ∼70 GTP-binding proteins, functioning in vesicle formation, transport and fusion. They are activated by a conformational change induced by GTP-binding, allowing interactions with downstream effectors. Here, we report five individuals with two recurrent de novo missense mutations in RAB11B; c.64G>A; p.Val22Met in three individuals and c.202G>A; p.Ala68Thr in two individuals. An...

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PMID: 29106825
DOI: 10.1016/j.ajhg.2017.09.015
PMCID: PMC5673605

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