Research
A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region
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* Corresponding author: Joseph D Buxbaum Joseph.Buxbaum@mssm.edu
1 Seaver Autism Center for Research and Treatment, Department of Psychiatry, Mount Sinai School of Medicine, New York, NY 10029, USA
2 Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA
3 Laboratory of Molecular Neuropsychiatry, Mount Sinai School of Medicine, New York, 10029 NY, USA
4 INSERM U952, 75005 Paris, France
5 CNRS UMR 7224, 75005 Paris, France
6 UPMC Univ Paris 06, 75005 Paris, France
7 Hospital Nacional de Niños Dr Sáenz Herrera, CCSS, Child Developmental and Behavioral Unit, San José, Costa Rica
8 Department of Disability and Human Development, University of Illinois at Chicago, Chicago, IL 60608, USA
9 Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA
10 Department of Neuroscience, Mount Sinai School of Medicine, New York, NY 10029, USA
11 The Charles R. Bronfman Institute for Personalized Medicine, Mount Sinai School of Medicine, New York, 10029 NY, USA
Molecular Autism 2010, 1:5 doi:10.1186/2040-2392-1-5
Published: 19 March 2010Additional files
Additional file 1:
Figure S1. Deletion of the UBE2Q2 and FBX022 genes in 15q24.2 in family au058. (a) Schematic representation of the 15q24 microdeletion identified with the Illumina 500 k SNP microarray in AGRE Family AU058. The map shows a 860 kb region in chromosome 15q24.2 (hg18 chr15: 73,540,000-74,400,000). The 108 kb deletion was present in two affected brothers (AU058-003 and AU058-004) and in their healthy father (AU058-002). The vertical bar indicates the LCR cluster 15q24D (BP2). Other smaller segmental duplications listed in UCSC are shown at the bottom. (b) The deletion was confirmed by qPCR using a probe in the UBE2Q2 gene in the two patients and their father; the mother (AU058-001) had normal gene dosage. Data represent mean ± SEM.
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Additional file 2:
Supplementary Table 1. Detailed clinical features in the present case and in 13 individuals with 15q24 deletions reported in the literature.
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Additional file 3:
Supplementary Table 2. Genes within the 15q24 microdeletion critical interval. Refseq genes in the minimal deletion interval defined by the atypical deletion in patient AU008.
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