Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome

• Published in: American journal of human genetics Vol. 88; no. 4; pp. 499 - 507
• Main Authors: Bem, Danai, Yoshimura, Shin-Ichiro, Nunes-Bastos, Ricardo, Bond, Frances F., Kurian, Manju A., Rahman, Fatima, Handley, Mark T.W., Hadzhiev, Yavor, Masood, Imran, Straatman-Iwanowska, Ania A., Cullinane, Andrew R., McNeill, Alisdair, Pasha, Shanaz S., Kirby, Gail A., Foster, Katharine, Ahmed, Zubair, Morton, Jenny E., Williams, Denise, Graham, John M., Dobyns, William B., Burglen, Lydie, Ainsworth, John R., Gissen, Paul, Müller, Ferenc, Maher, Eamonn R., Barr, Francis A., Aligianis, Irene A.
• Format: Journal Article
• Language: English
• Published: Cambridge, MA Elsevier Inc 08.04.2011; Cell Press; Elsevier
• Subjects: Abnormalities, Multiple - genetics; Abnormalities, Multiple - metabolism; Amino Acid Sequence; Amino Acid Substitution; Base Sequence; Biological and medical sciences; Cataract - congenital; Cataract - genetics; Cataract - metabolism; Codon, Terminator; Consanguinity; Cornea - abnormalities; Cornea - metabolism; Danio rerio; DNA Mutational Analysis; Female; Founder Effect; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genes; Genetics of eukaryotes. Biological and molecular evolution; Haplotypes; Hormones; Humans; Hypogonadism - genetics; Hypogonadism - metabolism; Intellectual Disability - genetics; Intellectual Disability - metabolism; Male; Medical genetics; Medical sciences; Microcephaly - genetics; Microcephaly - metabolism; Models, Molecular; Molecular and cellular biology; Molecular Sequence Data; Mutant Proteins - genetics; Mutant Proteins - metabolism; Mutation; Mutation, Missense; Neurodegeneration; Neurological disorders; Neurotransmitters; Optic Atrophy - genetics; Optic Atrophy - metabolism; Pathogenesis; Pedigree; Phenotype; Protein Binding; Proteins; rab GTP-Binding Proteins - chemistry; rab GTP-Binding Proteins - genetics; rab GTP-Binding Proteins - metabolism; rab3 GTP-Binding Proteins - genetics; Sequence Deletion; Sequence Homology, Amino Acid; Human; Loss function; Genetics; Mutation

Warburg Micro syndrome and Martsolf syndrome are heterogenous autosomal-recessive developmental disorders characterized by brain, eye, and endocrine abnormalities. Previously, identification of mutations in RAB3GAP1 and RAB3GAP2 in both these syndromes implicated dysregulation of the RAB3 cycle (whi...