Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome (pages 686–696)
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, Àngels García-Cazorla, Patrick Edery, Ian J. Jackson, Eamonn R. Maher and Irene A. Aligianis
Article first published online: 11 APR 2013 | DOI: 10.1002/humu.22296
Warburg Micro syndrome (OMIM 60018) and Martsolf syndrome (OMIM 21270) are related autosomal recessive neurodevelopmental disorders. Micro syndrome is more severe and characterized by ocular (microphthalmos, microcornea, congenital cataracts and optic atrophy) and neurodevelopmental pathology (microcephaly, polymicrogyria, hypogenesis of the corpus callosum, severe learning disability and progressive limb spasticity) and hypothalamic hypogonadism. Causative germline mutations have been identified in RAB3GAP1 (41% of families), RAB3GAP2 (7% of families) and RAB18 (5% of families) and result in a strikingly consistent phenotype.