Screening of subtle copy number changes in Aicardi syndrome patients with a high resolution X chromosome array-CGH

• Published in: European journal of medical genetics 2007-09, Vol.50 (5), p.386-391
• Main Authors: Yilmaz, Saliha, Fontaine, Hervé, Brochet, Karène, Grégoire, Marie-José, Devignes, Marie-Dominique, Schaff, Jean-Luc, Philippe, Christophe, Nemos, Christophe, McGregor, John Louis, Jonveaux, Philippe
• Format: Article
• Language: English
• Subjects: Abnormalities, Multiple - genetics; Adolescent; Adult; Agenesis of Corpus Callosum; Aicardi syndrome; Array-CGH; Base Sequence; Biological and medical sciences; Child; Choroid - abnormalities; Chromosomes, Human, X - genetics; Contractile Proteins - genetics; Developmental Disabilities - genetics; DNA Primers - genetics; Female; Filamins; Fundamental and applied biological sciences. Psychology; Gene Dosage; General aspects. Genetic counseling; Genetic Diseases, X-Linked - genetics; Genetics of eukaryotes. Biological and molecular evolution; Humans; Infant; Medical Education; Medical genetics; Medical sciences; Microfilament Proteins - genetics; Molecular and cellular biology; Nucleic Acid Hybridization; Oligonucleotide Array Sequence Analysis; Retina - abnormalities; Spasms, Infantile - genetics; Syndrome; X chromosome
• ISSN: 1769-7212; 1878-0849
• DOI: 10.1016/j.ejmg.2007.05.006

Abstract Aicardi syndrome (AIC) is an uncommon neurodevelopmental disorder affecting almost exclusively females. Chief features include infantile spasms, corpus callosal agenesis, and chorioretinal abnormalities. AIC is a sporadic disorder and hypothesized to be caused by heterozygous mutations in an X-linked gene but up to now without any defined candidate region on the X chromosome. Array based comparative genomic hybridisation (array-CGH) has become the method of choice for the detection of microdeletions and microduplications at high resolution. In this study, for the first time, 18 AIC patients were analyzed with a full coverage X chromosomal BAC arrays at a theoretical resolution of 82 kb. Copy number changes were validated by real-time quantitation (qPCR). No disease associated aberrations were identified. For such conditions as AIC, in which there are no familial cases, additional patients should be studied in order to identify rare cases with submicroscopic abnormalities, and to pursue a positional candidate gene approach.