Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia - Saillour, Y; Zanni, G; Des Portes, V; Heron, D; Guibaud, L; Iba-Zizen, M T; Pedespan, J L; Poirier, K; Castelnau, L; Julien, C; Franconnet, C; Bonthron, D; et al. (Journal of medical genetics, 2007)
Keywords: Adaptor Protein Complex sigma Subunits - chemistry; Adaptor Protein Complex sigma Subunits - deficiency; Adaptor Protein Complex sigma Subunits - genetics; Adult and adolescent clinical studies; Age; AP1S2; Basal Ganglia Diseases - epidemiology; Basal Ganglia Diseases - genetics; Biological and medical sciences; Brain - embryology; Brain - pathology; calcification of the basal ganglia; Calcinosis - epidemiology; Calcinosis - genetics; Cerebellar Nuclei - pathology; Codon, Nonsense; Cognitive science; Consortia; Deoxyribonucleic acid; DNA; Exons - genetics; Face - abnormalities; France - epidemiology; fried syndrome; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genes; Genetics of eukaryotes. Biological and molecular evolution; Humans; hydrocephalus; Hydrocephalus - epidemiology; Hydrocephalus - genetics; Infant, Newborn; Intellectual deficiency; Intellectual disabilities; Letter to JMG; Male; Medical genetics; Medical sciences; mental retardation; Mental Retardation, X-Linked - epidemiology; Mental Retardation, X-Linked - genetics; Molecular and cellular biology; Mutation; Neuroscience; Optic Atrophies, Hereditary - genetics; Patients; Pedigree; Protein Transport - genetics; Proteins; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; RNA Splice Sites - genetics; Scotland - epidemiology; Syndrome; France; Scotland; California; Adaptor; Human; Sex linked character; Nervous system diseases; Developmental disorder; Basal ganglion; Subunit; Mental retardation; Complexes; Protein; Cerebral disorder; Genetic disease; Association; Gene; Central nervous system disease; Intellectual deficiency; Calcification; Genetics; X-Chromosome; Mutation; Hydrocephaly