Macrocephaly and developmental delay caused by missense variants in RAB5C Article Swipe

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Klaas Koop , Weimin Yuan , Federico Tessadori , Wilmer R. Rodriguez-Polanco , Jeremy J. Grubbs , Bo Zhang , Matt Osmond , Gail E. Graham , Sarah L. Sawyer , Erin Conboy , Francesco Vetrini , Kayla Treat , Rafał Płoski , Victor Murcia Pienkowski , Anna Kłosowska , Elizabeth L. Fieg , Joel B. Krier , Coralie Mallebranche , Alban Ziegler , Kimberly A. Aldinger , Deborah Ritter , Ellen F. Macnamara , Bonnie Sullivan , John Herriges , Joseph T. Alaimo , Catherine Helbig , Colin A. Ellis , Clare L. van Eyk , Jozef Gécz , Daniel J. Farrugia , Ikeoluwa Osei‐Owusu , Lesley C. Adès , Marie-José van den Boogaard , Sabine A. Fuchs , Jeroen Bakker , Karen Duran , Zachary Dawson , Anika Lindsey , Huiyan Huang , Dustin Baldridge , Gary A. Silverman , Barth D. Grant , David M. Raizen , Maria T. Acosta , Margaret P Adam , David R. Adams , Justin Alvey , Laura M. Amendola , Ashley Andrews , Euan A. Ashley , Mahshid S. Azamian , Carlos A. Bacino , Güney Bademci , Ashok Balasubramanyam , Dustin Baldridge , Jim Bale , Michael Bamshad , Deborah Barbouth , Pınar Bayrak-Toydemir , Anita E. Beck , Alan H. Beggs , Edward M. Behrens , Gill Bejerano , Hugo J. Bellen , Jimmy Bennet , Beverly Berg-Rood , Jonathan A. Bernstein , Gerard T. Berry , Anna Bican , Stephanie Bivona , Elizabeth Blue , John Bohnsack , Devon Bonner , Lorenzo D. Botto , Brenna Boyd , Lauren C. Briere , Elly Brokamp , Gabrielle Brown , Elizabeth A. Burke , Lindsay C. Burrage , Manish J. Butte , Peter H. Byers , William E. Byrd , John C. Carey , Olveen Carrasquillo , Thomas Cassini , Ta Chen Chang , Sirisak Chanprasert , Hsiao‐Tuan Chao , Gary Clark , Terra R. Coakley , Laurel A. Cobban , Joy D. Cogan , Matthew Coggins , F. Sessions Cole , Heather A. Colley , Cynthia M. Cooper , Heidi Cope , William J. Craigen , Andrew B. Crouse ·

YOU? · · 2023 · Open Access · · DOI: https://doi.org/10.1093/hmg/ddad130

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 developmental delay. Patients with loss of function variants (n = 2) had an apparently more severe clinical phenotype with refractory epilepsy and intellectual disability but a normal head circumference. Four missense variants were investigated experimentally. In vitro biochemical studies revealed that all four variants were damaging, resulting in increased nucleotide exchange rate, attenuated responsivity to guanine exchange factors and heterogeneous effects on interactions with effector proteins. Studies in C. elegans confirmed that all four variants were damaging in vivo and showed defects in endocytic pathway function. The variant heterozygotes displayed phenotypes that were not observed in null heterozygotes, with two shown to be through a dominant negative mechanism. Expression of the human RAB5C variants in zebrafish embryos resulted in defective development, further underscoring the damaging effects of the RAB5C variants. Our combined bioinformatic, in vitro and in vivo experimental studies and clinical data support the association of RAB5C missense variants with a neurodevelopmental disorder characterized by macrocephaly and mild-to-moderate developmental delay through disruption of the endocytic pathway.

Related Topics

Biology

Krabi

Phenotype

Guanine Nucleotide Exchange Factor

Cell Biology

Cell (Biology)

Concepts

Missense mutation Biology Rab Macrocephaly Phenotype GTPase Endocytic cycle Genetics Guanine nucleotide exchange factor Cell biology Gene Cell Endocytosis

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Type: article
Language: en
Landing Page: https://doi.org/10.1093/hmg/ddad130
PDF: https://academic.oup.com/hmg/advance-article-pdf/doi/10.1093/hmg/ddad130/51054144/ddad130.pdf
OA Status: bronze
Cited By: 4
References: 59
Related Works: 10
OpenAlex ID: https://openalex.org/W4385666626

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OpenAlex ID: https://openalex.org/W4385666626

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DOI: https://doi.org/10.1093/hmg/ddad130

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Title: Macrocephaly and developmental delay caused by missense variants in RAB5C

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Type: article

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Language: en

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Publication year: 2023

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Publication date: 2023-08-08

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Authors: Klaas Koop, Weimin Yuan, Federico Tessadori, Wilmer R. Rodriguez-Polanco, Jeremy J. Grubbs, Bo Zhang, Matt Osmond, Gail E. Graham, Sarah L. Sawyer, Erin Conboy, Francesco Vetrini, Kayla Treat, Rafał Płoski, Victor Murcia Pienkowski, Anna Kłosowska, Elizabeth L. Fieg, Joel B. Krier, Coralie Mallebranche, Alban Ziegler, Kimberly A. Aldinger, Deborah Ritter, Ellen F. Macnamara, Bonnie Sullivan, John Herriges, Joseph T. Alaimo, Catherine Helbig, Colin A. Ellis, Clare L. van Eyk, Jozef Gécz, Daniel J. Farrugia, Ikeoluwa Osei‐Owusu, Lesley C. Adès, Marie-José van den Boogaard, Sabine A. Fuchs, Jeroen Bakker, Karen Duran, Zachary Dawson, Anika Lindsey, Huiyan Huang, Dustin Baldridge, Gary A. Silverman, Barth D. Grant, David M. Raizen, Maria T. Acosta, Margaret P Adam, David R. Adams, Justin Alvey, Laura M. Amendola, Ashley Andrews, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Güney Bademci, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael Bamshad, Deborah Barbouth, Pınar Bayrak-Toydemir, Anita E. Beck, Alan H. Beggs, Edward M. Behrens, Gill Bejerano, Hugo J. Bellen, Jimmy Bennet, Beverly Berg-Rood, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John Bohnsack, Devon Bonner, Lorenzo D. Botto, Brenna Boyd, Lauren C. Briere, Elly Brokamp, Gabrielle Brown, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter H. Byers, William E. Byrd, John C. Carey, Olveen Carrasquillo, Thomas Cassini, Ta Chen Chang, Sirisak Chanprasert, Hsiao‐Tuan Chao, Gary Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, Matthew Coggins, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Andrew B. Crouse

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Landing page: https://doi.org/10.1093/hmg/ddad130

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Concepts: Missense mutation, Biology, Rab, Macrocephaly, Phenotype, GTPase, Endocytic cycle, Genetics, Guanine nucleotide exchange factor, Cell biology, Gene, Cell, Endocytosis

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Cited by: 4

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