title: Molecular analysis of the Noggin (NOG) gene in holoprosencephaly patients.
abstract: Holoprosencephaly (HPE) is the most common structural anomaly of the human forebrain. Various genetic and teratogenic causes have been implicated in its pathogenesis. A recent report in mice described Noggin (NOG) as a candidate gene involved in the etiogenesis of microform HPE. Here, we present for the first time genetic analysis of a large HPE cohort for sequence variations in NOG. On the basis of our study, we conclude that mutations in the coding region of NOG are rare, and play at most an uncommon role in human HPE.
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
authors.forename: Kshitij
authors.initials: K
authors.lastname: Srivastava
authors.forename: Ping
authors.initials: P
authors.lastname: Hu
authors.forename: Benjamin D
authors.initials: BD
authors.lastname: Solomon
authors.forename: Jeffrey E
authors.initials: JE
authors.lastname: Ming
authors.forename: Erich
authors.initials: E
authors.lastname: Roessler
authors.forename: Maximilian
authors.initials: M
authors.lastname: Muenke
mesh_terms: D019943:Amino Acid Substitution; D002352:Carrier Proteins / Q000235:genetics*; D016142:Holoprosencephaly / Q000235:genetics*; D006801:Humans; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D000099176:Noggin Protein
chemical_list: D002352:Carrier Proteins; D000099176:Noggin Protein