A novel BMP15 variant, potentially affecting the signal peptide, in a familial case of premature ovarian failure

Clinical Endocrinology

Volumn 71, Issue 5, 2009, Pages 752-753

  Lakhal, Besma ^a   Laissue, Paul ^b,c   Braham, Rim ^a   Elghezal, Hatem ^a   Saâd, Ali ^a   Fellous, Marc ^b,c   Veitia, Reiner A ^d,e  

^a FARHAT HACHED HOSPITAL   (Tunisia)

^b INSTITUT COCHIN   (France)

^c INSERM   (France)

^d CNRS   (France)

^e UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BONE MORPHOGENETIC PROTEIN 15; GONADOTROPIN;

ADULT; AMENORRHEA; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CASE REPORT; DNA SEQUENCE; FEMALE; GENE MUTATION; GENETIC VARIABILITY; HUMAN; LETTER; PREMATURE OVARIAN FAILURE; PRIORITY JOURNAL; SEQUENCE ALIGNMENT; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AMINO ACID SEQUENCE; BONE MORPHOGENETIC PROTEIN 15; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; OVARIAN FAILURE, PREMATURE; PROTEIN SORTING SIGNALS; SEQUENCE ALIGNMENT; TUNISIA; YOUNG ADULT;

EID: 70349687369     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2009.03571.x     Document Type: Letter

References (5)

1. Laissue, P., Vinci, G., Veitia, R.A. et al. (2008) Recent advances in the study of genes involved in non-syndromic premature ovarian failure. Molecular and Cellular Endocrinology, 282, 101 111.
2. Hashimoto, O., Moore, R.K. Shimasaki, S. (2005) Posttranslational processing of mouse and human BMP-15: potential implication in the determination of ovulation quota. Proceedings of the National Academy of Science, 102, 5426 5431.
3. Di Pasquale, E., Beck-Peccoz, P. Persani, L. (2004) Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene. American Journal of Human Genetics, 75, 106 111.
4. Ledig, S., Röpke, A., Haeusler, G. et al. (2008) BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure. American Journal of Obstetetrics and Gynecology, 198, 84.
5. Mottershead, D.G., Pulkki, M.M., Muggalla, P. et al. (2008) Characterization of recombinant human growth differentiation factor-9 signaling in ovarian granulosa cells. Molecular and Cellular Endocrinology, 283, 58 67.