title: A cohort of balanced reciprocal translocations associated with dyslexia: identification of two putative candidate genes at DYX1.
abstract: Dyslexia is one of the most common neurodevelopmental disorders where likely many genes are involved in the pathogenesis. So far six candidate dyslexia genes have been proposed, and two of these were identified by rare chromosomal translocations in affected individuals. By systematic re-examination of all translocation carriers in Denmark, we have identified 16 different translocations associated with dyslexia. In four families, where the translocation co-segregated with the phenotype, one of the breakpoints concurred (at the cytogenetic level) with either a known dyslexia linkage region--at 15q21 (DYX1), 2p13 (DYX3) and 1p36 (DYX8)--or an unpublished linkage region at 19q13. As a first exploitation of this unique cohort, we identify three novel candidate dyslexia genes, ZNF280D and TCF12 at 15q21, and PDE7B at 6q23.3, by molecular mapping of the familial translocation with the 15q21 breakpoint.
authors.affiliation: Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen N, Denmark. roberta@sund.ku.dk
authors.forename: Roberta
authors.initials: R
authors.lastname: Buonincontri
authors.forename: Iben
authors.initials: I
authors.lastname: Bache
authors.forename: Asli
authors.initials: A
authors.lastname: Silahtaroglu
authors.forename: Carsten
authors.initials: C
authors.lastname: Elbro
authors.forename: Anne-Mette Veber
authors.initials: AM
authors.lastname: Nielsen
authors.forename: Reinhard
authors.initials: R
authors.lastname: Ullmann
authors.forename: Ger
authors.initials: G
authors.lastname: Arkesteijn
authors.forename: Niels
authors.initials: N
authors.lastname: Tommerup
mesh_terms: D000328:Adult; D000649:Amniocentesis; D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics*; D002648:Child; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D015331:Cohort Studies; D054708:Cyclic Nucleotide Phosphodiesterases, Type 7 / Q000235:genetics*; D003598:Cytoskeletal Proteins; D003718:Denmark; D004410:Dyslexia / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D006580:Genetic Carrier Screening; D006801:Humans; D007621:Karyotyping; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011247:Pregnancy; D014178:Translocation, Genetic / Q000235:genetics*; D016335:Zinc Fingers / Q000235:genetics*
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; D054708:Cyclic Nucleotide Phosphodiesterases, Type 7; D003598:Cytoskeletal Proteins; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; C478878:DNAAF4 protein, human; C073366:TCF12 protein, human; C517463:PDE7B protein, human