title: A genetic linkage study in Brazil identifies a new locus for persistent developmental stuttering on chromosome 10.
abstract: Although twin, adoption, and family studies demonstrate that genetic factors are involved in the origins of stuttering, the mode of transmission of the disorder in families is not well defined and stuttering is considered a genetically complex trait. We performed a genome-wide linkage scan in a group of 43 Brazilian families, each containing multiple cases of persistent developmental stuttering. Linkage analysis under a dominant model of inheritance generated significant evidence of linkage in two Brazilian families, with a combined maximum single-point LOD score of 4.02 and a multipoint LOD score of 4.28 on chromosome 10q21. This demonstrated the presence of a novel variant gene at this locus that predisposes individuals to stuttering, which provides an opportunity to identify novel genetic mechanisms that underlie this disorder.
authors.affiliation: National Institute on Deafness and other Communication Disorders, National Institutes of Health, Rockville, MD, USA.
authors.forename: C E F
authors.initials: CE
authors.lastname: Domingues
authors.affiliation: Departamento de Fonoaudiologia, Centro de Estudos da Educação e da Saúde, Universidade Estadual Paulista "Júlio de Mesquita Filho", Marília, SP, Brasil.
authors.forename: C M C
authors.initials: CM
authors.lastname: Olivera
authors.affiliation: Departamento de Genética, Instituto de Biociências de Botucatu, Universidade Estadual Paulista "Júlio de Mesquita Filho", Botucatu, SP, Brasil.
authors.forename: B V
authors.initials: BV
authors.lastname: Oliveira
authors.affiliation: Departamento de Fonoaudiologia, Fisioterapia e Terapia Ocupacional, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.
authors.forename: F S
authors.initials: FS
authors.lastname: Juste
authors.affiliation: Departamento de Fonoaudiologia, Fisioterapia e Terapia Ocupacional, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.
authors.forename: C R F
authors.initials: CR
authors.lastname: Andrade
authors.affiliation: Departamento de Fonoaudiologia, Centro de Estudos da Educação e da Saúde, Universidade Estadual Paulista "Júlio de Mesquita Filho", Marília, SP, Brasil.
authors.forename: C M
authors.initials: CM
authors.lastname: Giacheti
authors.affiliation: Departamento de Genética, Instituto de Biociências de Botucatu, Universidade Estadual Paulista "Júlio de Mesquita Filho", Botucatu, SP, Brasil.
authors.forename: D
authors.initials: D
authors.lastname: Moretti-Ferreira
authors.affiliation: National Institute on Deafness and other Communication Disorders, National Institutes of Health, Rockville, MD, USA drayna@nidcd.nih.gov.
authors.forename: D
authors.initials: D
authors.lastname: Drayna
mesh_terms: D001938:Brazil; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10; D005260:Female; D056726:Genetic Association Studies; D008040:Genetic Linkage; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D040641:Quantitative Trait Loci; D013342:Stuttering / Q000235:genetics*
chemical_list: D005819:Genetic Markers