American journal of obstetrics and gynecology · 2007
BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure.
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Ledig Susanne, Röpke Albrecht, Haeusler Gabriele, Hinney Bernd, Wieacker Peter
Аннотация
OBJECTIVE: Premature ovarian failure (POF) is a heterogeneous group of diseases with amenorrhea before the age of 40 years and elevated gonadotropins. Recently, heterozygous mutations in the X-linked gene encoding bone morphogenetic protein-15 (BMP15) have been identified as a possible cause of ovarian failure.
STUDY DESIGN: Molecular analysis of BMP15, growth differentiation factor-9 (GDF9), and follicle-stimulating hormone receptor (FSHR) in patients with ovarian failure.
RESULTS: We can show that a BMP15 alteration, previously described as a mutation, is instead a polymorphism. A digenic inheritance of POF including BMP15 and FSHR is unlikely. Mutations in GDF9 could not be detected.
CONCLUSION: Caution is recommended in the interpretation of BMP15 mutations in the context of POF.
STUDY DESIGN: Molecular analysis of BMP15, growth differentiation factor-9 (GDF9), and follicle-stimulating hormone receptor (FSHR) in patients with ovarian failure.
RESULTS: We can show that a BMP15 alteration, previously described as a mutation, is instead a polymorphism. A digenic inheritance of POF including BMP15 and FSHR is unlikely. Mutations in GDF9 could not be detected.
CONCLUSION: Caution is recommended in the interpretation of BMP15 mutations in the context of POF.
Предметные рубрики MeSH
AdultBase SequenceBone Morphogenetic Protein 15Case-Control StudiesFemaleGene Expression Regulation, DevelopmentalGenetic Predisposition to DiseaseGonadal Dysgenesis, 46,XXGrowth Differentiation Factor 9HumansIntercellular Signaling Peptides and ProteinsMolecular Sequence DataMutationPolymerase Chain ReactionPolymorphism, GeneticPrimary Ovarian InsufficiencyReceptors, FSHReference ValuesSensitivity and SpecificitySeverity of Illness Index