Abstract
CHARGE syndrome is an autosomal dominant disorder, characterized by ocular Coloboma, congenital Heart defects, choanal Atresia, Retardation, Genital anomalies and Ear anomalies. Over 90 % of typical CHARGE patients are mutated in the CHD7 gene, 65 %-70 % of the cases for all typical and suspected cases combined. The gene encoding for a protein involved in chromatin organization. The mutational spectrum include nonsense, frameshift, splice site, and missense mutations. Large deletions and genomic rearrangements are rare. We report here on a 5.9 years old male of Moroccan origin displaying classic clinical features of CHARGE syndrome. Using CGH array and NGS analysis we detected a microdeletion (184 kb) involving the promoter region and exon 1 of CHD7 gene and the flanking RAB2 gene. The present observation suggests that deletion limited to the regulatory region of CHD7 is sufficient to cause the full blown CHARGE phenotype. Different size of deletions can result in different phenotypes, ranging from a milder to severe CHARGE syndrome; this is based on a combination of major and minor diagnostic characteristics, therefore to a more variable clinical features, likely due to the additive effect of other genetic imbalances. MLPA and...Continue Reading
References
Nov 1, 1992·The Journal of Cell Biology·E J TisdaleW E Balch
Jan 1, 1991·Journal of Medical Genetics·J A HurstM Baraitser
Aug 1, 1981·The Journal of Pediatrics·R A PagonS L Yong
Mar 15, 1993·Proceedings of the National Academy of Sciences of the United States of America·V DelmasR P Perry
Oct 23, 1997·Proceedings of the National Academy of Sciences of the United States of America·T WoodageF S Collins
Aug 10, 2004·Nature Genetics·Lisenka E L M VissersAd Geurts van Kessel
Jan 27, 2005·American Journal of Medical Genetics. Part a·Cammon B ArringtonDavid H Viskochil
Sep 13, 2005·Journal of Medical Genetics·M C J JongmansC M A van Ravenswaaij
Sep 20, 2005·Journal of Medical Genetics·D SanlavilleT Attié-Bitach
Apr 18, 2006·The Journal of Pediatrics·Michihiko AramakiKenjiro Kosaki
Apr 17, 2008·Journal of Medical Genetics·S MonfortF Martínez
May 1, 2008·Clinical Genetics·J WincentJ Schoumans
Sep 24, 2009·European Journal of Medical Genetics·Anna M LehmanLinlea Armstrong
Oct 27, 2009·The Journal of Clinical Investigation·Victoria RandallPeter J Scambler
Feb 27, 2010·American Journal of Medical Genetics. Part a·Gabriel E ZentnerPeter C Scacheri
Jul 27, 2010·PLoS Genetics·Michael P SchnetzPeter C Scacheri
Dec 17, 2010·Genetic Testing and Molecular Biomarkers·Cynthia F BartelsSherri Bale
Jan 12, 2011·Nature Biotechnology·James T RobinsonJill P Mesirov
Mar 8, 2011·Journal of Medical Genetics·J E H BergmanC M A van Ravenswaaij-Arts
Jan 20, 2012·European Journal of Human Genetics : EJHG·Cyril AmourouxDavid Geneviève
Mar 31, 2012·Human Mutation·Nicole JanssenLies H Hoefsloot
Apr 21, 2012·Briefings in Bioinformatics·Helga ThorvaldsdóttirJill P Mesirov
Apr 28, 2012·Human Mutation·Jorieke E H BergmanRobert M W Hofstra
Nov 13, 2012·Gene·Orazio PalumboMassimo Carella
Citations
Nov 28, 2017·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Marine LegendreBrigitte Gilbert-Dussardier
Oct 15, 2018·Acta neurologica Belgica·Carmine UngaroFrancesca Luisa Conforti
May 10, 2020·Head & Face Medicine·Manogari ChettyMike Urban