RESEARCH ARTICLE Reciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8L Rebecca A. Nebel1, Jill Kirschen1,2,3, Jinlu Cai1¤, Young Jae Woo1, Koshi Cherian4,5,6, Brett S. Abrahams1,2* 1 Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, United States of America, 2 Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, New York, United States of America, 3 Department of Medicine, Albert Einstein College of Medicine, Bronx, New York, a11111 United States of America, 4 Saul R. Korey Department of Neurology, Albert Einstein College of Medicine and Montefiore Medical Center, Bronx, New York, United States of America, 5 Epilepsy Management Center, Albert Einstein College of Medicine and Montefiore Medical Center, Bronx, New York, United States of America, 6 Department of Pediatrics, Albert Einstein College of Medicine and Montefiore Medical Center, Bronx, New York, United States of America ¤ Current address: Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America OPEN ACCESS *
[email protected] Citation: Nebel RA, Kirschen J, Cai J, Woo YJ, Cherian K, Abrahams BS (2015) Reciprocal Relationship between Head Size, an Autism Abstract Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8L. PLoS ONE 10(6): Microcephaly and macrocephaly are overrepresented in individuals with autism and are e0129270. doi:10.1371/journal.pone.0129270 thought to be disease-related risk factors or endophenotypes. Analysis of DNA microarray Academic Editor: Masako Taniike, Osaka University, results from a family with a low functioning autistic child determined that the proband and JAPAN two additional unaffected family members who carry a rare inherited 760 kb duplication of Received: January 15, 2015 unknown clinical significance at 19p13.12 are macrocephalic.