Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype

• Published in: Fertility and sterility Vol. 95; no. 8; pp. 2658 - 2660.e1
• Main Authors: Ojeda, Diego, M.Sc, Lakhal, Besma, Ph.D, Fonseca, Dora Janneth, M.Sc, Braham, Rim, M.D, Landolsi, Hanène, Ph.D, Mateus, Heidi Eliana, M.D, Restrepo, Carlos Martín, M.D., Ph.D, Elghezal, Hatem, M.D, Saâd, Ali, M.D., Ph.D, Laissue, Paul, M.D., Ph.D
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 30.06.2011; Elsevier
• Subjects: animal ovaries; Biological and medical sciences; Case-Control Studies; CDKN1B; Colombia; Cyclin-Dependent Kinase Inhibitor p27 - genetics; Diseases of mother, fetus and pregnancy; DNA Mutational Analysis; Female; Gene Frequency; genes; Genetic Predisposition to Disease; Gynecology. Andrology. Obstetrics; Humans; Internal Medicine; Medical sciences; mice; Mutation; mutations; Obstetrics and Gynecology; ovarian development; patients; Phenotype; Pregnancy. Fetus. Placenta; Premature ovarian failure (POF); Primary Ovarian Insufficiency - genetics; sequence analysis; sequencing; Tunisia; Colombia; Tunisia; Premature ovarian failure (POF); CDKN1B; mutations; sequencing; Endocrinopathy; Human; Premature; Nucleotide sequence; Gynecology; Obstetrics; Female genital diseases; Ovarian diseases; Phenotype; Gene; Ovarian failure; Mutation; Sequencing
• ISSN: 0015-0282; 1556-5653
• DOI: 10.1016/j.fertnstert.2011.04.045

Earlier reports demonstrated a key role of Cdkn1b during mouse ovarian development. In this study, the sequencing analysis of the complete coding region of this gene in a panel of premature ovarian failure patients and control subjects reveals a novel mutation potentially related to the phenotype.