title: Multipoint genome-wide linkage scan for nonword repetition in a multigenerational family further supports chromosome 13q as a locus for verbal trait disorders.
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.
authors.affiliation: Department of Pediatrics, Yale School of Medicine, New Haven, CT, 06510, USA.
authors.forename: D T
authors.initials: DT
authors.lastname: Truong
authors.affiliation: Waisman Center, University of Wisconsin-Madison, Madison, WI, 53705, USA.
authors.forename: L D
authors.initials: LD
authors.lastname: Shriberg
authors.affiliation: Department of Pediatrics, University of Nebraska at Omaha, Omaha, NE, 68182, USA.
authors.forename: S D
authors.initials: SD
authors.lastname: Smith
authors.affiliation: Department of Communication Sciences and Disorders, University of Utah, Salt Lake City, UT, 84112, USA.
authors.forename: K L
authors.initials: KL
authors.lastname: Chapman
authors.affiliation: Department of Speech-Language Pathology, California State University, San Marcos, CA, 92096, USA.
authors.forename: A R
authors.initials: AR
authors.lastname: Scheer-Cohen
authors.affiliation: Department of Pediatrics, Yale School of Medicine, New Haven, CT, 06510, USA.
authors.forename: M M C
authors.initials: MM
authors.lastname: DeMille
authors.affiliation: Department of Genetics, Yale School of Medicine, New Haven, CT, 06510, USA.
authors.forename: A K
authors.initials: AK
authors.lastname: Adams
authors.affiliation: Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, 98195, USA.
authors.forename: A Q
authors.initials: AQ
authors.lastname: Nato
authors.affiliation: Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, 98195, USA.|Department of Biostatistics and Department of Genome Sciences, University of Washington, Seattle, WA, 98195, USA.
authors.forename: E M
authors.initials: EM
authors.lastname: Wijsman
authors.affiliation: Department of Genetics, Yale School of Medicine, New Haven, CT, 06510, USA.
authors.forename: J D
authors.initials: JD
authors.lastname: Eicher
authors.affiliation: Department of Pediatrics, Yale School of Medicine, New Haven, CT, 06510, USA. jeffrey.gruen@yale.edu.|Department of Genetics, Yale School of Medicine, New Haven, CT, 06510, USA. jeffrey.gruen@yale.edu.|Investigative Medicine Program, Yale School of Medicine, New Haven, CT, 06510, USA. jeffrey.gruen@yale.edu.
authors.forename: J R
authors.initials: JR
authors.lastname: Gruen
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D029721:Drosophila Proteins; D004410:Dyslexia / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007806:Language Disorders / Q000235:genetics* / Q000503:physiopathology; D008126:Lod Score; D008297:Male; D008565:Membrane Proteins; D008875:Middle Aged; D009687:Nuclear Proteins; D010375:Pedigree; D040641:Quantitative Trait Loci / Q000235:genetics*; D011932:Reading; D013064:Speech Disorders / Q000235:genetics* / Q000503:physiopathology; D014956:Writing
chemical_list: D029721:Drosophila Proteins; D008565:Membrane Proteins; D009687:Nuclear Proteins; C063595:Ote protein, Drosophila