title: A Hutterite condition that mimics Bowen-Conradi syndrome.
abstract: Bowen-Conradi syndrome (BCS) is a common autosomal recessive condition in the Hutterite population. In 2012, when BCS clinical testing was not available, we reported two babies believed to have BCS based upon their clinical features. Diagnostic molecular testing is now available for this condition. We describe here a brother born to the parents of one of the infants in our previous report. Although clinically both babies in the 2012 report appeared to have the same condition, this current infant was found to have a normal EMG1 gene sequence, and thus, lacks the Hutterite mutation for BCS. We discuss the importance of molecular testing in the Hutterite population.
authors.forename: Jason D
authors.initials: JD
authors.lastname: Flanagan
authors.forename: Suzanne
authors.initials: S
authors.lastname: Reuter
authors.forename: Patricia L
authors.initials: PL
authors.lastname: Crotwell
authors.forename: Angela
authors.initials: A
authors.lastname: Myers
authors.forename: Kristen
authors.initials: K
authors.lastname: De Berg
mesh_terms: D005317:Fetal Growth Retardation / Q000175:diagnosis / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008780:Methyltransferases / Q000235:genetics*; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011596:Psychomotor Disorders / Q000175:diagnosis / Q000235:genetics*; D017422:Sequence Analysis, DNA; D035781:Siblings
chemical_list: D009687:Nuclear Proteins; C549212:EMG1 protein, human; D008780:Methyltransferases