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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome
Human Mutation, Volume 34, No. 5, Year 2013
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Description
Warburg Micro syndrome and Martsolf syndrome (MS) are heterogeneous autosomal-recessive developmental disorders characterized by brain, eye, and endocrine abnormalities. Causative biallelic germline mutations have been identified in RAB3GAP1, RAB3GAP2, or RAB18, each of which encode proteins involved in membrane trafficking. This report provides an up to date overview of all known disease variants identified in 29 previously published families and 52 new families. One-hundred and forty-four Micro and nine Martsolf families were investigated, identifying mutations in RAB3GAP1 in 41% of cases, mutations in RAB3GAP2 in 7% of cases, and mutations in RAB18 in 5% of cases. These are listed in Leiden Open source Variation Databases, which was created by us for all three genes. Genotype-phenotype correlations for these genes have now established that the clinical phenotypes in Micro syndrome and MS represent a phenotypic continuum related to the nature and severity of the mutations present in the disease genes, with more deleterious mutations causing Micro syndrome and milder mutations causing MS. RAB18 has not yet been linked to the RAB3 pathways, but mutations in all three genes cause an indistinguishable phenotype, making it likely that there is some overlap. There is considerable genetic heterogeneity for these disorders and further gene identification will help delineate these pathways. © 2013 Wiley Periodicals, Inc.
Authors & Co-Authors
Handley, Mark T.W.
United Kingdom, Edinburgh
Mrc Human Genetics Unit
Morris-Rosendahl, Deborah J.
Germany, Freiburg Im Breisgau
Universitätsklinikum Freiburg
France, Lyon
Chu de Lyon
United Kingdom, London
National Heart and Lung Institute
Brown, Stephen D.M.
United Kingdom, Edinburgh
Mrc Human Genetics Unit
MacDonald, Fiona E.
United Kingdom, Birmingham
Birmingham Women's Hospital
Hardy, Carol
United Kingdom, Birmingham
Birmingham Women's Hospital
Bem, Danai
United Kingdom, Birmingham
University of Birmingham
Carpanini, Sarah
United Kingdom, Edinburgh
Mrc Human Genetics Unit
Borck, Guntram
Germany, Ulm
Universität Ulm
Martorell, Loreto
Spain, Esplugues de Llobregat
Hospital Sant Joan de Déu Barcelona
Izzi, Claudia
Italy, Brescia
Università Degli Studi Di Brescia
Faravelli, Francesca
Italy, Genoa
E.o. Ospedali Galliera
Accorsi, Patrizia
Unknown Affiliation
Pinelli, Lorenzo
Unknown Affiliation
Basel-Vanagaite, Lina
Israel, Petah Tiqwa
Rabin Medical Center Israel
Israel, Tel Aviv-yafo
Tel Aviv University
Peretz, Gabriela
Israel, Petah Tiqwa
Rabin Medical Center Israel
Abdel-Salam, Ghada M.H.
Egypt, Giza
National Research Centre
Zaki, Maha S.
Egypt, Giza
National Research Centre
Jansen, Anna C.
Belgium, Brussels
Pediatric Neurology Unit
Mowat, David R.
Australia, Sydney
Sydney Children's Hospital, Randwick
Glass, Ian A.
United States, Seattle
University of Washington
Stewart, Helen
United Kingdom, Oxford
Churchill Hospital
Mancini, Grazia Maria Simonetta
Netherlands, Rotterdam
Erasmus Mc
Lederer, Damien
Belgium, Loverval
Institut de Morphologie Pathologique, Loverval
Roscioli, Tony
Netherlands, Nijmegen
Radboud Institute for Molecular Life Sciences
Australia, Sydney
Unsw Sydney
Giuliano, Fabienne
France, Nice
Centre Hospitalier Universitaire de Nice, Hôpital L'archet
Plomp, Astrid S.
Netherlands, Amsterdam
Amsterdam Umc - University of Amsterdam
Rolfs, Arndt
Germany, Rostock
Universität Rostock
Germany, Rostock
Centogene ag
Graham, John M.
United States, Los Angeles
Cedar Sinai Medical Center
Seemanova, Eva
Czech Republic, Prague
Charles University
Póo-Argüelles, Pilar
Spain, Esplugues de Llobregat
Hospital Sant Joan de Déu Barcelona
García-Cazorla, Àngels
Spain, Esplugues de Llobregat
Hospital Sant Joan de Déu Barcelona
Edery, Patrick
France, Lyon
Chu de Lyon
Jackson, Ian James
United Kingdom, Edinburgh
Mrc Human Genetics Unit
Mäher, Eamonn Richard
United Kingdom, Birmingham
University of Birmingham
United Kingdom, Birmingham
Birmingham Women’s and Children’s Nhs Foundation Trust
Aligianis, Irene A.
United Kingdom, Edinburgh
Mrc Human Genetics Unit
Statistics
Citations: 116
Authors: 35
Affiliations: 28
Identifiers
Doi:
10.1002/humu.22296
ISSN:
10597794
e-ISSN:
10981004
Research Areas
Cancer
Genetics And Genomics
Health System And Policy