title: Combined pituitary hormone deficiency in an inbred Brazilian kindred associated with a mutation in the PROP-1 gene.
abstract: Mutations in the pituitary-specific paired-like homeodomain transcription factor PROP-1 result in combined pituitary hormone deficiency (CPHD) which includes all anterior pituitary hormones with the exception of ACTH. In an inbred pedigree with CPHD, direct sequencing of the PROP-1 gene revealed a deletion of two base pairs (301-302delAG) in exon 2, resulting in a frameshift and a premature stop in codon 109 in the homeodomain. The clinical characteristics of this family support the notion that this truncation results in a more severe phenotype than missense mutations in the aminoterminal part of the homeodomain.
mesh_terms: D000328:Adult; D001483:Base Sequence; D001938:Brazil; D002648:Child; D002895:Chromosomes, Human, Pair 5; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D008040:Genetic Linkage; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010907:Pituitary Hormones / Q000172:deficiency*