Article
Macrocephaly and developmental delay caused by missense variants in RAB5C.
Human molecular genetics - 17 Oct 2023
Koop Klaas, Yuan Weimin, Tessadori Federico, Rodriguez-Polanco Wilmer R, Grubbs Jeremy, Zhang Bo, Osmond Matt, Graham Gail, Sawyer Sarah, Conboy Erin, Vetrini Francesco, Treat Kayla, Płoski Rafal, Pienkowski Victor Murcia, Kłosowska Anna, Fieg Elizabeth, Krier Joel, Mallebranche Coralie, Alban Ziegler, Aldinger Kimberly A, Ritter Deborah, Macnamara Ellen, Sullivan Bonnie, Herriges John, Alaimo Joseph T, Helbig Catherine, Ellis Colin A, van Eyk Clare, Gecz Jozef, Farrugia Daniel, Osei-Owusu Ikeoluwa, Adès Lesley, van den Boogaard Marie-Jose, Fuchs Sabine, Bakker Jeroen, Duran Karen, Dawson Zachary D, Lindsey Anika, Huang Huiyan, Baldridge Dustin, Silverman Gary A, Grant Barth D, Raizen David, van Haaften Gijs, Pak Stephen C, Rehmann Holger, Schedl Tim, van Hasselt Peter
Abstract excerpt
Rab GTPases are important regulators of intracellular vesicular trafficking. RAB5C is a member of the Rab GTPase family that plays an important role in the endocytic pathway, membrane protein recycling and signaling. Here we report on 12 individuals with nine different heterozygous de novo variants in RAB5C. All but one patient with missense variants (n = 9) exhibited macrocephaly, combined with mild-to-moderate...
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