Multipoint genome-wide linkage scan for nonword repetition in a multigenerational family further supports chromosome 13q as a locus for verbal trait disorders
Year: 2016
Type: article
Study design: Observational Study
Abstract: Verbal trait disorders encompass a wide range of conditions and are marked by deficits in five domains that impair a person's ability to communicate: speech, language, reading, spelling, and writing. Nonword repetition is a robust endophenotype for verbal trait disorders that is sensitive to cognitive processes critical to verbal development, including auditory processing, phonological working memory, and motor planning and programming. In the present study, we present a six-generation extended pedigree with a history of verbal trait disorders. Using genome-wide multipoint variance component linkage analysis of nonword repetition, we identified a region spanning chromosome 13q14-q21 with LOD = 4.45 between 52 and 55 cM, spanning approximately 5.5 Mb on chromosome 13. This region overlaps with SLI3, a locus implicated in reading disability in families with a history of specific language impairment. Our study of a large multigenerational family with verbal trait disorders further implicates the SLI3 region in verbal trait disorders. Future studies will further refine the specific causal genetic factors in this locus on chromosome 13q that contribute to language traits.
Source: Human Genetics
Language: English
Subfield: Developmental and Educational Psychology
Field: Psychology
Domain: Social Sciences
Open Access status: hybrid
Estimated APC paid: $3,690
Funders: Yale University, Waisman Center, Manton Foundation, National Institutes of Health, National Institute of Mental Health, National Institute on Deafness and Other Communication Disorders, National Institute of General Medical Sciences, National Center for Advancing Translational Sciences, Eunice Kennedy Shriver National Institute of Child Health and Human Development
Awards: 2/3 Sequencing Autism Spectrum Disorder Extended Pedigrees, G2456394151, G2582025022, G4038956369, G4259389865, Developmental Phonological Disorders, G5520316217, Waisman Intellectual and Developmental Disabilities Research Center, Research in Perinatal Medicine, G7779598647, G8275474765, Pleiotropic Roles of Dyslexia Genes in Neurodevelopmental Language Impairments, G8909899696, G9000038758, G9000070489, G9000185276, G9000227661, Genetics and Genomics of Human Disease, Yale Clinical and Translational Science Award
OpenAlex ID: W2512787274