A novel 6.14 Mb duplication of chromosome 8p21 in a patient with autism and self mutilation
A novel 6.14 Mb duplication of chromosome 8p21 in a patient with autism and self mutilation
Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders with a strong genetic etiology. Cytogenetic abnormalities have been detected in 5–10% of the patients with autism. In this study, we present the clinical, cytogenetic and array-comparative genomic hybridization (array-CGH) evaluation of a 13-year-old male with severe developmental delay, facial dysmorphic features, autism and self mutilation. The patient was found to carry a de novo duplication of chromosome region 8p21 of minimally 6.14 and maximally 6.58 Mb as ascertained by bacterial artificial chromosome (BAC)-based array-CGH. Hitherto, only a few patients with autism with cytogenetically visible duplications involving the chromosome 8p21 region have been described, but the extent of these duplications has not been determined at the molecular level. This represents the smallest rearrangement of chromosomal region 8p21 as yet found in a patient with autism. For 11 of the 36 genes with known functions located within this duplication clear transcription in the brain was found. Of those the STMN4 and DPYSL2 genes are the most likely candidate genes to be involved in neuronal development, and, if altered in gene-dosage, in the autistic phenotype of our patient.
autism spectrum disorder, array comparative genomic hybridization, developmental delay, fluorescent in situ hybridization, self mutilation, STMN4, DPYSL2
322-329
Ozgen, Heval M.
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Staal, Wouter G.
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Barber, John C.
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de Jonge, Maretha V.
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Eleveld, Marc J.
ab9b7a53-0bc3-4748-8f4c-7af3f0cb2a6d
Beemer, Frits A.
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Hochstenbach, Ron
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Poot, Martin
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February 2009
Ozgen, Heval M.
f2156580-99ef-4a9a-a26b-0609b30fa5de
Staal, Wouter G.
8a747861-6ccd-4923-b376-90389b291c08
Barber, John C.
4785a6e4-bd63-4230-ab61-41a0ae12c761
de Jonge, Maretha V.
50d0d0f0-b0af-427b-961d-7ee6d84e9c4a
Eleveld, Marc J.
ab9b7a53-0bc3-4748-8f4c-7af3f0cb2a6d
Beemer, Frits A.
9acf62e8-2c27-4a40-bad4-193405df518c
Hochstenbach, Ron
467449d0-b2d7-413b-bd3a-6cd9d98578b1
Poot, Martin
f572bb47-1761-4d12-927b-fccb7159cbf5
Ozgen, Heval M., Staal, Wouter G., Barber, John C., de Jonge, Maretha V., Eleveld, Marc J., Beemer, Frits A., Hochstenbach, Ron and Poot, Martin
(2009)
A novel 6.14 Mb duplication of chromosome 8p21 in a patient with autism and self mutilation.
Journal of Autism and Developmental Disorders, 39 (2), .
(doi:10.1007/s10803-008-0627-x).
Abstract
Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders with a strong genetic etiology. Cytogenetic abnormalities have been detected in 5–10% of the patients with autism. In this study, we present the clinical, cytogenetic and array-comparative genomic hybridization (array-CGH) evaluation of a 13-year-old male with severe developmental delay, facial dysmorphic features, autism and self mutilation. The patient was found to carry a de novo duplication of chromosome region 8p21 of minimally 6.14 and maximally 6.58 Mb as ascertained by bacterial artificial chromosome (BAC)-based array-CGH. Hitherto, only a few patients with autism with cytogenetically visible duplications involving the chromosome 8p21 region have been described, but the extent of these duplications has not been determined at the molecular level. This represents the smallest rearrangement of chromosomal region 8p21 as yet found in a patient with autism. For 11 of the 36 genes with known functions located within this duplication clear transcription in the brain was found. Of those the STMN4 and DPYSL2 genes are the most likely candidate genes to be involved in neuronal development, and, if altered in gene-dosage, in the autistic phenotype of our patient.
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Published date: February 2009
Keywords:
autism spectrum disorder, array comparative genomic hybridization, developmental delay, fluorescent in situ hybridization, self mutilation, STMN4, DPYSL2
Identifiers
Local EPrints ID: 69708
URI: http://eprints.soton.ac.uk/id/eprint/69708
ISSN: 0162-3257
PURE UUID: 4949a31f-30fc-4e92-9666-8d8a5aa15f42
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Date deposited: 30 Nov 2009
Last modified: 13 Mar 2024 19:42
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Contributors
Author:
Heval M. Ozgen
Author:
Wouter G. Staal
Author:
John C. Barber
Author:
Maretha V. de Jonge
Author:
Marc J. Eleveld
Author:
Frits A. Beemer
Author:
Ron Hochstenbach
Author:
Martin Poot
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