A Novel 6.14 Mb Duplication of Chromosome 8p21 in a Patient with Autism and Self Mutilation

Autor/inn/en	Ozgen, Heval M.; Staal, Wouter G.; Barber, John C.; de Jonge, Maretha V.; Eleveld, Marc J.; Beemer, Frits A.; Hochstenbach, Ron; Poot, Martin
Titel	A Novel 6.14 Mb Duplication of Chromosome 8p21 in a Patient with Autism and Self Mutilation
Quelle	In: Journal of Autism and Developmental Disorders, 39 (2009) 2, S.322-329 (8 Seiten) PDF als Volltext Verfügbarkeit
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	0162-3257
DOI	10.1007/s10803-008-0627-x
Schlagwörter	Self Destructive Behavior; Autism; Pervasive Developmental Disorders; Genetics; Patients; Etiology; Developmental Delays; Males; Brain; Diagnostic Tests; Cytology + Suchen Sie Ihr Suchwort? Self destrucive behaviour; Selbstzerstörung; Autismus; Humangenetik; Patient; Ätiologie; Entwicklungsverzögerung; Male; Männliches Geschlecht; Gehirn; Diagnostic test; Diagnostischer Test; Zytologie
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. (As Provided).
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Erfasst von	ERIC (Education Resources Information Center), Washington, DC
Update	2017/4/10