title: Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH.
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.
authors.affiliation: Neonatal Unit, First Department of Pediatrics, Medical School, University of Athens, Athens, Greece.
authors.forename: Marios
authors.initials: M
authors.lastname: Kaliakatsos
authors.forename: Aristeidis
authors.initials: A
authors.lastname: Giannakopoulos
authors.forename: Helena
authors.initials: H
authors.lastname: Fryssira
authors.forename: Maria
authors.initials: M
authors.lastname: Kanariou
authors.forename: Anna-Venetia
authors.initials: AV
authors.lastname: Skiathitou
authors.forename: Tania
authors.initials: T
authors.lastname: Siahanidou
authors.forename: Krinio
authors.initials: K
authors.lastname: Giannikou
authors.forename: Periklis
authors.initials: P
authors.lastname: Makrythanasis
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Kanavakis
authors.forename: Maria
authors.initials: M
authors.lastname: Tzetis
mesh_terms: D058747:CHARGE Syndrome / Q000235:genetics / Q000276:immunology / Q000473:pathology; D055028:Comparative Genomic Hybridization / Q000379:methods*; D004265:DNA Helicases / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000235:genetics / Q000276:immunology / Q000473:pathology; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D011506:Proteins / Q000235:genetics; D017384:Sequence Deletion / Q000235:genetics*; D016511:Severe Combined Immunodeficiency / Q000235:genetics / Q000276:immunology / Q000473:pathology
chemical_list: D004268:DNA-Binding Proteins; D011506:Proteins; D004265:DNA Helicases; C491434:CHD7 protein, human