Three novel mutations in POU1F1 in Israeli patients with combined pituitary hormone deficiency.

doi:10.1515/jpem.2005.18.4.385

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Article

Three novel mutations in POU1F1 in Israeli patients with combined pituitary hormone deficiency.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Apr 2005

Gat-Yablonski G, Klar A, Hirsch D, Eliakim A, Lazar L, Hurvitz H, Phillip M

Abstract excerpt

BACKGROUND: POU1F1, a pituitary-specific transcription factor of the class 1 POU family, is crucial for the development and differentiation of the anterior pituitary gland. Mutations in the POU1F1 gene have been shown to be responsible for a syndrome of combined pituitary hormone deficiency (CPHD), including prolactin, growth hormone and thyroid-stimulating hormone deficiencies. METHODS: Five patients with CPHD...

Topics

Arginine
Child
Child, Preschool
DNA-Binding Proteins
Female
Gene Deletion
Glutamine
Humans
Israel
Leucine
Male
Middle Aged
Mutation
Mutation, Missense
Phenylalanine
Pituitary Hormones
Protein Structure, Tertiary
Transcription Factor Pit-1

Source

Open in PubMed

Identifiers

PMID: 15844473
DOI: 10.1515/jpem.2005.18.4.385

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