title: Gene analysis of PROP1 in dwarfism with combined pituitary hormone deficiency.
abstract: The prophet of Pit-1 gene (PROP1), a novel pituitary-specific homeodomain factor, has been proved to be one of the causative genes for combined pituitary hormone deficiency (CPHD). Recently, PROP1 mutations have been identified in CPHD families, including our Russian cohort. The 2-bp deletion, 296delGA (A301G302del), is the most common mutational hot spot. Furthermore, in our cohort, PROP1 mutations are more common in comparison with human POU1F1 gene mutations. Here we review the gene analysis of PROP1 in patients with CPHD.
authors.affiliation: Department of International Health and Radiation Research, Nagasaki University School of Medicine, Japan. takamura@net.nagasaki-u.ac.jp
authors.forename: N
authors.initials: N
authors.lastname: Takamura
authors.forename: O V
authors.initials: OV
authors.lastname: Fofanova
authors.forename: E
authors.initials: E
authors.lastname: Kinoshita
authors.forename: S
authors.initials: S
authors.lastname: Yamashita
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002648:Child; D017931:DNA Primers / Q000235:genetics; D004393:Dwarfism, Pituitary / Q000235:genetics* / Q000378:metabolism*; D005260:Female; D005801:Genes, Homeobox; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D010375:Pedigree; D010907:Pituitary Hormones / Q000172:deficiency*; D017384:Sequence Deletion; D017386:Sequence Homology, Amino Acid; D013045:Species Specificity; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D017931:DNA Primers; D018398:Homeodomain Proteins; D010907:Pituitary Hormones; C102134:Prophet of Pit-1 protein; D014157:Transcription Factors