title: Premature ovarian failure caused by a heterozygous missense mutation in POF1B and a reciprocal translocation 46,X,t(X;3)(q21.1;q21.3).
abstract: In a patient affected by premature ovarian failure, a reciprocal translocation between chromosomes X and 3 and an additional heterozygous missense mutation in the X-linked gene POF1B were detected. Homozygosity for POF1B mutations is well-known to be associated with premature ovarian failure. In this case, the rare combination of skewed X inactivation due to the reciprocal translocation involving one X chromosome and heterozygosity for a known POF1B mutation explains the phenotype.
authors: Institute of Human Genetics, University Hospital Münster, Münster, Germany.
authors: Susanne
authors: S
authors: Ledig
authors: Sabine
authors: S
authors: Preisler-Adams
authors: Susanne
authors: S
authors: Morlot
authors: Thomas
authors: T
authors: Liehr
authors: Peter
authors: P
authors: Wieacker
mesh_terms: D000328:Adult; D002871:Chromosome Banding; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008840:Microfilament Proteins; D020125:Mutation, Missense / Q000235:genetics*; D016133:Polymerase Chain Reaction; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D014178:Translocation, Genetic; D049951:X Chromosome Inactivation / Q000235:genetics
chemical_list: D008840:Microfilament Proteins; C500687:POF1B protein, human; D011506:Proteins