title: Ordered-subset analysis of savant skills in autism for 15q11-q13.
abstract: Autism is a complex disorder characterized by genetic and phenotypic heterogeneity. Analysis of phenotypically homogeneous subtypes has been used to both confirm and narrow potential autism linkage regions such as the chromosomal region 15q11-q13. Increased evidence for linkage in this region had been found in a subgroup of 21 autism families (total families = 94) stratified based on a savant skill factor (SSF) from the Autism Diagnostic Interview, Revised (ADI-R). We examined the savant phenotypic finding in our sample of 91 multiplex autism families. Using two-point parametric analysis in stratification with a cutoff point of a savant skill score of 0.16, our families failed to demonstrate linkage to 15q11-q13. In addition, ordered subset analysis (OSA) using SSF as a covariate also failed to show evidence for linkage. Our findings do not support savant skills as an informative phenotypic subset for linkage in our sample.
authors.affiliation: Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA.
authors.forename: D Q
authors.initials: DQ
authors.lastname: Ma
authors.forename: J
authors.initials: J
authors.lastname: Jaworski
authors.forename: M M
authors.initials: MM
authors.lastname: Menold
authors.forename: S
authors.initials: S
authors.lastname: Donnelly
authors.forename: R K
authors.initials: RK
authors.lastname: Abramson
authors.forename: H H
authors.initials: HH
authors.lastname: Wright
authors.forename: G R
authors.initials: GR
authors.lastname: Delong
authors.forename: J R
authors.initials: JR
authors.lastname: Gilbert
authors.forename: M A
authors.initials: MA
authors.lastname: Pericak-Vance
authors.forename: Michael L
authors.initials: ML
authors.lastname: Cuccaro
mesh_terms: D000293:Adolescent; D000328:Adult; D001321:Autistic Disorder / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics