CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon

BMC Medical Genetics
Elisa PisaneschiBruno Dallapiccola

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

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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

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Methods Mentioned

BETA
cochlear implants
Feature Extraction

Software Mentioned

Integrative Genome Viewer ( IGV )
Feature Extraction
Agilent Scanner
Agilent Genomic Workbench

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