OBJECTIVE: The authors conducted a genetic linkage study of families that have both autism spectrum disorder (ASD) and language-impaired probands to find common communication impairment loci. The hypothesis was that these families have a high genetic loading for impairments in language ability, thus influencing the language and communication deficits of the family members with ASD. Comprehensive behavioral phenotyping of the families also enabled linkage analysis of quantitative measures, including normal, subclinical, and disordered variation in all family members for the three general autism symptom domains: social, communication, and compulsive behaviors. METHOD: The primary linkage analysis coded persons with either ASD or specific language impairment as "affected." The secondary linkage analysis consisted of quantitative metrics of autism-associated behaviors capturing normal to clinically severe variation, measured in all family members. RESULTS: Linkage to language phenotypes was established at two novel chromosomal loci, 15q23-26 and 16p12. The secondary analysis of normal and disordered quantitative variation in social and compulsive behaviors established linkage to two loci for social behaviors (at 14q and 15q) and one locus for repetitive behaviors (at 13q). CONCLUSION: These data indicate shared etiology of ASD and specific language impairment at two novel loci. Additionally, nonlanguage phenotypes based on social aloofness and rigid personality traits showed compelling evidence for linkage in this study group. Further genetic mapping is warranted at these loci.
OBJECTIVE: The authors conducted a genetic linkage study of families that have both autism spectrum disorder (ASD) and language-impaired probands to find common communication impairment loci. The hypothesis was that these families have a high genetic loading for impairments in language ability, thus influencing the language and communication deficits of the family members with ASD. Comprehensive behavioral phenotyping of the families also enabled linkage analysis of quantitative measures, including normal, subclinical, and disordered variation in all family members for the three general autism symptom domains: social, communication, and compulsive behaviors. METHOD: The primary linkage analysis coded persons with either ASD or specific language impairment as "affected." The secondary linkage analysis consisted of quantitative metrics of autism-associated behaviors capturing normal to clinically severe variation, measured in all family members. RESULTS: Linkage to language phenotypes was established at two novel chromosomal loci, 15q23-26 and 16p12. The secondary analysis of normal and disordered quantitative variation in social and compulsive behaviors established linkage to two loci for social behaviors (at 14q and 15q) and one locus for repetitive behaviors (at 13q). CONCLUSION: These data indicate shared etiology of ASD and specific language impairment at two novel loci. Additionally, nonlanguage phenotypes based on social aloofness and rigid personality traits showed compelling evidence for linkage in this study group. Further genetic mapping is warranted at these loci.
Authors: Jacqueline A Duvall; Ake Lu; Rita M Cantor; Richard D Todd; John N Constantino; Daniel H Geschwind Journal: Am J Psychiatry Date: 2007-04 Impact factor: 18.112
Authors: Y Bradford; J Haines; H Hutcheson; M Gardiner; T Braun; V Sheffield; T Cassavant; W Huang; K Wang; V Vieland; S Folstein; S Santangelo; J Piven Journal: Am J Med Genet Date: 2001-08-08
Authors: John N Constantino; Christian P Gruber; Sandra Davis; Stephanie Hayes; Natalie Passanante; Thomas Przybeck Journal: J Child Psychol Psychiatry Date: 2004-05 Impact factor: 8.982
Authors: Maricela Alarcón; Brett S Abrahams; Jennifer L Stone; Jacqueline A Duvall; Julia V Perederiy; Jamee M Bomar; Jonathan Sebat; Michael Wigler; Christa L Martin; David H Ledbetter; Stanley F Nelson; Rita M Cantor; Daniel H Geschwind Journal: Am J Hum Genet Date: 2008-01 Impact factor: 11.025
Authors: W K Goodman; L H Price; S A Rasmussen; C Mazure; R L Fleischmann; C L Hill; G R Heninger; D S Charney Journal: Arch Gen Psychiatry Date: 1989-11
Authors: Liping Hou; Christopher Phillips; Marco Azaro; Linda M Brzustowicz; Christopher W Bartlett Journal: PLoS One Date: 2011-05-17 Impact factor: 3.240
Authors: Jennifer K Lowe; Donna M Werling; John N Constantino; Rita M Cantor; Daniel H Geschwind Journal: Am J Psychiatry Date: 2014-11-07 Impact factor: 18.112
Authors: Anbo Zhou; Xiaolong Cao; Vaidhyanathan Mahaganapathy; Marco Azaro; Christine Gwin; Sherri Wilson; Steven Buyske; Christopher W Bartlett; Judy F Flax; Linda M Brzustowicz; Jinchuan Xing Journal: Hum Genet Date: 2022-10-17 Impact factor: 5.881
Authors: Matthew Bruni; Judy F Flax; Steven Buyske; Amber D Shindhelm; Caroline Witton; Linda M Brzustowicz; Christopher W Bartlett Journal: Behav Genet Date: 2016-11-09 Impact factor: 2.805
Authors: Robert L Hendren; Stephanie L Haft; Jessica M Black; Nancy Cushen White; Fumiko Hoeft Journal: Front Psychiatry Date: 2018-03-27 Impact factor: 4.157