title: Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene.
abstract: Cretinism is marked by irreversible mental and growth retardation. We describe here an entirely new case of cretinism showing combined pituitary hormone deficiencies of thyrotropin, growth hormone and prolactin that appears to be caused by homozygosity for a nonsense mutation in the gene for the pituitary specific transcription activator, Pit-1/GHF-1 (designated PIT1 in humans for pituitary specific factor 1). This is the first report in humans of a defect in a transcription activator causing deficiency of multiple target genes.
authors.affiliation: Department of Laboratory Medicine, Osaka University Medical School, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Tatsumi
authors.forename: K
authors.initials: K
authors.lastname: Miyai
authors.forename: T
authors.initials: T
authors.lastname: Notomi
authors.forename: K
authors.initials: K
authors.lastname: Kaibe
authors.forename: N
authors.initials: N
authors.lastname: Amino
authors.forename: Y
authors.initials: Y
authors.lastname: Mizuno
authors.forename: H
authors.initials: H
authors.lastname: Kohno
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D003409:Congenital Hypothyroidism / Q000235:genetics* / Q000378:metabolism*; D003241:Consanguinity; D004247:DNA / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D013006:Growth Hormone / Q000172:deficiency; D006728:Hormones / Q000172:deficiency*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D011388:Prolactin / Q000172:deficiency; D013972:Thyrotropin / Q000172:deficiency; D050817:Transcription Factor Pit-1; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D006728:Hormones; C494187:POU1F1 protein, human; D050817:Transcription Factor Pit-1; D014157:Transcription Factors; D011388:Prolactin; D013972:Thyrotropin; D013006:Growth Hormone; D004247:DNA