title: Braddock-Carey syndrome: A 21q22 contiguous gene syndrome encompassing RUNX1.
abstract: In 1994, Braddock and Carey first reported two unrelated girls with a new multiple malformation syndrome. The primary features included Pierre Robin sequence, persistent neonatal-onset thrombocytopenia, agenesis of the corpus callosum, a distinctive facies, enamel hypoplasia, and severe developmental delay. Since that time, there have been multiple other reported patients with a similar phenotype. In addition, several reports of thrombocytopenia and developmental delay have been documented in association with deletions in the Down syndrome critical region at 21q22. The similarity of the reported cases with deletions involving 21q22 with the clinical presentation of the two patients with Braddock-Carey syndrome resulted in a reinvestigation of the genetic etiology of these two patients 20 years after the original study. This investigation provides evidence that the etiology of this and other "Fanconi-like" disorders represent a newly recognized contiguous gene deletion syndrome involving 21q22 and specifically, the RUNX1 gene. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Saint Louis University, Saint Louis, Missouri. braddock@slu.edu.|SSM Cardinal Glennon Children's Hospital, Saint Louis, Missouri. braddock@slu.edu.
authors.forename: Stephen R
authors.initials: SR
authors.lastname: Braddock
authors.affiliation: Department of Pathology, University of Utah, Salt Lake City, Utah.|ARUP Laboratories, University of Utah, Salt Lake City, Utah.
authors.forename: Sarah T
authors.initials: ST
authors.lastname: South
authors.affiliation: Department of Pediatrics, University of Utah, Salt Lake City, Utah.
authors.forename: Joshua D
authors.initials: JD
authors.lastname: Schiffman
authors.affiliation: ARUP Laboratories, University of Utah, Salt Lake City, Utah.
authors.forename: Maria
authors.initials: M
authors.lastname: Longhurst
authors.affiliation: ARUP Laboratories, University of Utah, Salt Lake City, Utah.
authors.forename: Leslie R
authors.initials: LR
authors.lastname: Rowe
authors.affiliation: Department of Pediatrics, University of Utah, Salt Lake City, Utah.
authors.forename: John C
authors.initials: JC
authors.lastname: Carey
mesh_terms: D061085:Agenesis of Corpus Callosum / Q000175:diagnosis* / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002891:Chromosomes, Human, Pair 21; D055028:Comparative Genomic Hybridization; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D019066:Facies; D017809:Fatal Outcome; D005260:Female; D056726:Genetic Association Studies; D006130:Growth Disorders / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007223:Infant; D010641:Phenotype; D010855:Pierre Robin Syndrome / Q000175:diagnosis* / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D013921:Thrombocytopenia / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit
keywords: Braddock-Carey; RUNX1; Robin sequence; agenesis of the corpus callosum; thrombocytopenia