title: The HOPA gene dodecamer duplication is not a significant etiological factor in autism.
abstract: A recent study has suggested that a dodecamer duplication in the HOPA gene in Xq13 may occur in a significant portion of male patients with autism. We have determined the incidence of this duplication in 202 patients from the South Carolina Autism Study. The incidence of the duplication was not significantly different between patients and controls. Three of the female patients inherited the duplication from nonautistic fathers. In addition, there was no systematic skewing of X inactivation in the female patients with the duplication, or in nonautistic mothers and sisters with the duplication. These findings suggest that the dodecamer duplication in the HOPA gene does not play a significant role in the etiology of autism.
authors.affiliation: J. C. Self Research Institute, Greenwood Genetic Center, South Carolina 29646, USA. ronmich@ggc.org
authors.forename: R C
authors.initials: RC
authors.lastname: Michaelis
authors.forename: S A
authors.initials: SA
authors.lastname: Copeland-Yates
authors.forename: K
authors.initials: K
authors.lastname: Sossey-Alaoui
authors.forename: C
authors.initials: C
authors.lastname: Skinner
authors.forename: M J
authors.initials: MJ
authors.lastname: Friez
authors.forename: J W
authors.initials: JW
authors.lastname: Longshore
authors.forename: R J
authors.initials: RJ
authors.lastname: Simensen
authors.forename: R J
authors.initials: RJ
authors.lastname: Schroer
authors.forename: R E
authors.initials: RE
authors.lastname: Stevenson
mesh_terms: D000328:Adult; D001321:Autistic Disorder / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D020440:Gene Duplication; D015870:Gene Expression / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D015994:Incidence; D008297:Male; D014960:X Chromosome / Q000235:genetics