Abstract
Phenotypic variation in CHARGE syndrome remains unexplained. A subcategory of CHARGE patients show overlapping phenotypic characteristics with DiGeorge syndrome (thymic hypo/aplasia, hypocalcemia, T-cell immunodeficiency). Very few have been tested or reported to carry a mutation of the CHD7 (chromodomain helicase DNA-binding domain) gene detected in two-thirds of CHARGE patients. In an attempt to explore the genetic background of a severe CHARGE/DiGeorge phenotype, we performed comparative genomic array hybridization in an infant carrier of a CHD7 mutation. The high-resolution comparative genomic array hybridization revealed interesting findings, including a deletion distal to the DiGeorge region and disruptions in other chromosomal regions of genes implicated in immunological and other functions possibly contributing to the patient's severe phenotype and early death.
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Acknowledgements
We are grateful to Dr Lies H Hoefsloot and her collaborators (DNA Diagnostics Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands) for carrying out whole CHD7 gene sequencing analysis, as well as to Dr Marianna Tzanoudaki and Cleopatra Spanou, MSc (Department of Immunology and Histocompatibility, ‘Aghia Sophia’ Children's Hospital, Athens, Greece) for immunological analysis. K Giannikou is supported by a scholarship provided by the Alexander Onassis Foundation. We also wish to express our gratitude to the parents for their consent to report this case.
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Kaliakatsos, M., Giannakopoulos, A., Fryssira, H. et al. Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH. J Hum Genet 55, 761–763 (2010). https://doi.org/10.1038/jhg.2010.95
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DOI: https://doi.org/10.1038/jhg.2010.95
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