title: The molecular genetics and neurobiology of developmental dyslexia as model of a complex phenotype.
abstract: Among complex disorders, those concerning neuropsychiatric phenotypes involve particular challenges compared to disorders with more easily distinguished clinical signs and measures. One such common and unusually challenging phenotype to disentangle genetically is developmental dyslexia (DD), or reading disability, defined as the inability to learn to read and write for an otherwise normally intelligent child with normal senses and educational opportunity. There is presently ample evidence for the strongly biological etiology for DD, and a dozen susceptibility genes have been suggested. Many of these genes point to common but previously unsuspected biological mechanisms, such as neuronal migration and cilia functions. I discuss here the state-of-the-art in genomic and neurobiological aspects of DD research, starting with short general background to its history.
authors: Department of Biosciences and Nutrition, Centre for Innovative Medicine, Karolinska Institutet, Stockholm, Sweden; Molecular Neurology Research Program, University of Helsinki, Folkhälsan Institute of Genetics, Helsinki, Finland. Electronic address: juha.kere@ki.se.
authors: Juha
authors: J
authors: Kere
mesh_terms: D000818:Animals; D001141:Aromatase / Q000235:genetics; D001369:Axons / Q000473:pathology; D002465:Cell Movement; D002648:Child; D003598:Cytoskeletal Proteins; D004410:Dyslexia / Q000235:genetics* / Q000473:pathology*; D008040:Genetic Linkage; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D007804:Language Development; D008565:Membrane Proteins; D024101:Mitochondrial Proteins / Q000235:genetics; D023421:Models, Animal; D009419:Nerve Tissue Proteins / Q000235:genetics; D059906:Neuroimaging; D009474:Neurons / Q000378:metabolism / Q000473:pathology; D009687:Nuclear Proteins / Q000235:genetics; D010641:Phenotype; D051381:Rats; D011971:Receptors, Immunologic / Q000235:genetics; D012269:Ribosomal Proteins / Q000235:genetics; D000097905:Roundabout Proteins
chemical_list: D001141:Aromatase; D003598:Cytoskeletal Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D011971:Receptors, Immunologic; D012269:Ribosomal Proteins; D000097905:Roundabout Proteins; C478878:DNAAF4 protein, human; C496590:MRPL19 protein, human; C112633:PTTG1IP protein, human; C561410:CYP19A1 protein, human
keywords: Cilia function; Cognitive function; Neuronal migration; Reading disability; White matter