BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure.
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.


METHODS
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.


CONCLUSIONS
Caution is recommended in the interpretation of BMP15 mutations in the context of POF.
Ledig
Susanne
S
Institute of Human Genetics, Otto-von-Guericke University Magdeburg, Magdeburg, Germany.
Röpke
Albrecht
A
Haeusler
Gabriele
G
Hinney
Bernd
B
Wieacker
Peter
P
D000328:Adult; D001483:Base Sequence; D055430:Bone Morphogenetic Protein 15; D016022:Case-Control Studies; D005260:Female; D018507:Gene Expression Regulation, Developmental; D020022:Genetic Predisposition to Disease; D023961:Gonadal Dysgenesis, 46,XX / Q000175:diagnosis / Q000235:genetics*; D055429:Growth Differentiation Factor 9; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D016649:Primary Ovarian Insufficiency / Q000175:diagnosis / Q000235:genetics*; D011962:Receptors, FSH / Q000235:genetics; D012016:Reference Values; D012680:Sensitivity and Specificity; D012720:Severity of Illness Index