Create a free QxMD account to take advantage of the features offered by Read like saving your papers and creating collections.

Get Started

JOURNAL ARTICLE

REVIEW

RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes

Mark T Handley, Irene A Aligianis

Biochemical Society Transactions 2012 December 1, 40 (6): 1394-7

Micro syndrome (OMIM 60018) and Martsolf syndrome (OMIM 21270) are related rare autosomal recessive disorders characterized by ocular and neurological abnormalities and hypothalamic hypogonadism. Micro syndrome has been associated with causative mutations in three disease genes: RAB3GAP1, RAB3GAP2 and RAB18. Martsolf syndrome has been associated with a mutation in RAB3GAP2. The present review summarizes the current literature on these genes and the proteins they encode.

Full Text Links

Find Full Text Links for this Article

Discussion

You are not logged in. Sign Up or Log In to join the discussion.

Related Papers

Loss-of-function mutations in RAB18 cause Warburg micro syndrome. Danai Bem, Shin-Ichiro Yoshimura, Ricardo Nunes-Bastos, Frances C Bond, Frances F Bond, Manju A Kurian, Fatima Rahman, Mark T W Handley, Yavor Hadzhiev, Imran Masood, Ania A Straatman-Iwanowska, Andrew R Cullinane, Alisdair McNeill, Shanaz S Pasha, Gail A Kirby, Katharine Foster, Zubair Ahmed, Jenny E Morton, Denise Williams, John M Graham, William B Dobyns, Lydie Burglen, John R Ainsworth, Paul Gissen, Ferenc Müller, Eamonn R Maher, Francis A Barr, Irene A Aligianis American Journal of Human Genetics 2011 April 8, 88 (4): 499-507

A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. Guntram Borck, Heidrun Wunram, Angela Steiert, Alexander E Volk, Friederike Körber, Sigrid Roters, Peter Herkenrath, Bernd Wollnik, Deborah J Morris-Rosendahl, Christian Kubisch Human Genetics 2011, 129 (1): 45-50

Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. Mark T Handley, Deborah J Morris-Rosendahl, Stephen Brown, Fiona Macdonald, Carol Hardy, Danai Bem, Sarah M Carpanini, Guntram Borck, Loreto Martorell, Claudia Izzi, Francesca Faravelli, Patrizia Accorsi, Lorenzo Pinelli, Lina Basel-Vanagaite, Gabriela Peretz, Ghada M H Abdel-Salam, Maha S Zaki, Anna Jansen, David Mowat, Ian Glass, Helen Stewart, Grazia Mancini, Damien Lederer, Tony Roscioli, Fabienne Giuliano, Astrid S Plomp, Arndt Rolfs, John M Graham, Eva Seemanova, Pilar Poo, Angels García-Cazorla, Patrick Edery, Ian J Jackson, Eamonn R Maher, Irene A Aligianis Human Mutation 2013, 34 (5): 686-96

Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1. Sylvie Picker-Minh, Andreas Busche, Britta Hartmann, Birgit Spors, Eva Klopocki, Christoph Hübner, Denise Horn, Angela M Kaindl Orphanet Journal of Rare Diseases 2014, 9: 113

RECURRENT RAB3GAP1 MUTATIONS IN THE TURKISH POPULATION. S Tasdemir, I Sahin, D J Morris-Rosendahl, E Marzioglu, A Cayir, I Yuce, A Tatar Genetic Counseling 2015, 26 (4): 415-23

Warburg micro syndrome in two children from a highly inbred Turkish family. M S Yildirim, A G Zamani, B Bozkurt Genetic Counseling 2012, 23 (2): 169-74

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish. Deborah J Morris-Rosendahl, Reeval Segel, A Peter Born, Christoph Conrad, Bart Loeys, Susan Sklower Brooks, Laura Müller, Christine Zeschnigk, Christina Botti, Ron Rabinowitz, Gökhan Uyanik, Marc-Antoine Crocq, Uwe Kraus, Ingrid Degen, Fran Faes European Journal of Human Genetics: EJHG 2010, 18 (10): 1100-6

Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation. Mark T Handley, Sarah M Carpanini, Girish R Mali, Duska J Sidjanin, Irene A Aligianis, Ian J Jackson, David R FitzPatrick Open Biology 2015, 5 (6): 150047

Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. Ryan P Liegel, Mark T Handley, Adam Ronchetti, Stephen Brown, Lars Langemeyer, Andrea Linford, Bo Chang, Deborah J Morris-Rosendahl, Sarah Carpanini, Renata Posmyk, Verity Harthill, Eamonn Sheridan, Ghada M H Abdel-Salam, Paulien A Terhal, Francesca Faravelli, Patrizia Accorsi, Lucio Giordano, Lorenzo Pinelli, Britta Hartmann, Allison D Ebert, Francis A Barr, Irene A Aligianis, Duska J Sidjanin American Journal of Human Genetics 2013 December 5, 93 (6): 1001-14

Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome. Ignacio Arroyo-Carrera, María Solo de Zaldívar Tristancho, Eva Bermejo-Sánchez, María Luisa Martínez-Fernández, Amparo López-Lafuente, Alexandra MacDonald, Ángel Zúñiga, José Luis Gómez-Skarmeta, María Luisa Martínez-Frías American Journal of Medical Genetics. Part A 2015, 167 (6): 1243-51

Make the most of Read.
Download the mobile app.

Want full text access to this paper?

Use Read by QxMD to access full text via your institution or open access sources.

Read also provides personalized recommendations to keep you up to date in your field.

Existing User

New to Read

RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes

Discussion

Related Papers

Want full text access to this paper?

Save your favorite articles in one place with a free QxMD account.

Read

Search Tips