Abstract
BackgroundPrevious studies focusing on candidate genes and chromosomal regions identified several copy number variations (CNVs) associated with increased risk of autism or autism spectrum disorders (ASD).Case PresentationWe describe a 17-year-old girl with autism, severe mental retardation, epilepsy, and partial 9p duplication syndrome features in whom GTG-banded chromosome analysis revealed a female karyotype with a marker chromosome in 69% of analyzed metaphases. Array CGH analysis showed that the marker chromosome originated from 9p24.3 to 9p13.1 with a gain of 38.9 Mb. This mosaic 9p duplication was detected only in the proband and not in the parents, her four unaffected siblings, or 258 ethnic controls. Apart from the marker chromosome, no other copy number variations (CNVs) were detected in the patient or her family. Detailed analysis of the duplicated region revealed: i) an area extending from 9p22.3 to 9p22.2 that was previously identified as a critical region for the 9p duplication syndrome; ii) a region extending from 9p22.1 to 9p13.1 that was previously reported to be duplicated in a normal individual; and iii) a potential ASD locus extending from 9p24.3 to 9p23. The ASD candidate locus contained 34 genes that may contribute to the autistic features in this patient.ConclusionWe identified a potential ASD locus (9p24.3 to 9p23) that may encompass gene(s) contributing to autism or ASD.
Highlights
Previous studies focusing on candidate genes and chromosomal regions identified several copy number variations (CNVs) associated with increased risk of autism or autism spectrum disorders (ASD).Case Presentation: We describe a 17-year-old girl with autism, severe mental retardation, epilepsy, and partial 9p duplication syndrome features in whom GTG-banded chromosome analysis revealed a female karyotype with a marker chromosome in 69% of analyzed metaphases
We identified a potential Autism spectrum disorders (ASD) locus (9p24.3 to 9p23) that may encompass gene(s) contributing to autism or ASD
Autism spectrum disorders (ASD), including autism, are neuro-developmental disorders characterized by impairment in social and communication skills together with stereotyped and repetitive behavior and/or a restricted range of interests
Summary
Autism spectrum disorders (ASD), including autism, are neuro-developmental disorders characterized by impairment in social and communication skills together with stereotyped and repetitive behavior and/or a restricted range of interests. Autism has not been associated previously with an isolated 9p duplication [13], but this patient had a large, isolated, mosaic 9p24.3 to 9p13.1 duplication that is likely symptomatic given that the duplication was de novo, that it was not a polymorphic variant, that it segregated with autism in this family, and that some genes in the duplicated region have been linked previously to autistic features She had a potential ASD locus extending from 9p24.3 to 9p23 (Figure 3) which, after removing hypothetical genes, encompassed 34 genes (Additional file 2: Table S2).
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