title: Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot.
abstract: Haploinsufficiency of TAB2 was recently implicated as a cause for a variety of congenital heart defects. Reported cases have genomic deletions of 2-10 Mbs including TAB2 at 6q24-25 are almost always de novo and show variable cardiac and extra cardiac phenotype. We report on an inherited, 281 kb deletion in a three generation family. This is the smallest reported deletion involving TAB2 that segregates with congenital heart defects. Three affected individuals in this family present with myxomatous cardiac valves in addition to structural heart defects commonly associated with TAB2 deletions. Findings from this family support a key role of TAB2 haploinsufficiency in congenital heart defects and expand the phenotypic spectrum of TAB2-microdeletion syndrome.
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
authors.forename: Karin
authors.initials: K
authors.lastname: Weiss
authors.affiliation: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.
authors.forename: Carolyn
authors.initials: C
authors.lastname: Applegate
authors.affiliation: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.|Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland.
authors.forename: Tao
authors.initials: T
authors.lastname: Wang
authors.affiliation: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.|Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland.|Cytogenetics and Microarray Laboratory, Kennedy Krieger Institute, Baltimore, Maryland.
authors.forename: Denise A S
authors.initials: DA
authors.lastname: Batista
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D002675:Child, Preschool; D002872:Chromosome Deletion; D005190:Family; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications* / Q000235:genetics*; D006351:Heart Valves / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D013771:Tetralogy of Fallot / Q000150:complications* / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C410585:TAB2 protein, human
keywords: TAB2; cardiac outflow tract; congenital heart defect; deletion 6q; myxomatous cardiac valves