title: Screening for PIT1 abnormality by PCR direct sequencing method.
abstract: PIT1 abnormality is defined as a genetic abnormality in the PIT1 gene, which encodes a pituitary specific transcription factor Pit-1/GHF-1.PIT1 abnormality has been reported in several patients displaying either complete or incomplete deficiency of thyrotropin (TSH), growth hormone (GH), and prolactin (PRL) in either familial or sporadic cases. To see if there are abnormalities in the PIT1 gene in patients with incomplete TSH, GH, and PRL deficiency, we utilized a PCR direct sequencing method to determine the Pit-1/GHF-1 coding sequence. A total of 15 patients, 1 patient from a family with TSH and GH deficiency, 3 patients with TSH, GH, and PRL deficiency, and 11 patients treated with both human GH (hGH) and thyroid hormone were studied. In one patient of combined pituitary hormone deficiency, the Arg-271-Trp mutation was detected. Since both of the parents did not harbor this mutation, it is a de novo germ line mutation. No mutation was detected in the other patients, showing that PIT1 abnormality is not a frequent cause of GH deficiency.
authors.affiliation: Department of Laboratory Medicine, Osaka University Medical School, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Irie
authors.forename: K
authors.initials: K
authors.lastname: Tatsumi
authors.forename: S
authors.initials: S
authors.lastname: Kusuda
authors.forename: H
authors.initials: H
authors.lastname: Kawawaki
authors.forename: S C
authors.initials: SC
authors.lastname: Boyages
authors.forename: O
authors.initials: O
authors.lastname: Nose
authors.forename: Y
authors.initials: Y
authors.lastname: Ichiba
authors.forename: N
authors.initials: N
authors.lastname: Katsumata
authors.forename: N
authors.initials: N
authors.lastname: Amino
mesh_terms: D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D005260:Female; D018095:Germ-Line Mutation; D013006:Growth Hormone / Q000172:deficiency / Q000627:therapeutic use; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D008969:Molecular Sequence Data; D009154:Mutation; D049294:Phospholipid Transfer Proteins; D010907:Pituitary Hormones / Q000172:deficiency; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011388:Prolactin / Q000172:deficiency; D029701:Saccharomyces cerevisiae Proteins; D013963:Thyroid Hormones / Q000627:therapeutic use; D013972:Thyrotropin / Q000172:deficiency
chemical_list: D002352:Carrier Proteins; D008565:Membrane Proteins; D049294:Phospholipid Transfer Proteins; D010907:Pituitary Hormones; C118289:SEC24 protein, S cerevisiae; D029701:Saccharomyces cerevisiae Proteins; D013963:Thyroid Hormones; D011388:Prolactin; D013972:Thyrotropin; D013006:Growth Hormone