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

Diego Ojeda; Besma Lakhal; Dora Janneth Fonseca; Rim Braham; Hanène Landolsi; Heidi Eliana Mateus; Carlos Martín Restrepo; Hatem Elghezal; Ali Saâd; Paul Laissue

doi:10.1016/j.fertnstert.2011.04.045

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

Fertil Steril. 2011 Jun 30;95(8):2658-60.e1. doi: 10.1016/j.fertnstert.2011.04.045. Epub 2011 May 14.

Authors

Diego Ojeda¹, Besma Lakhal, Dora Janneth Fonseca, Rim Braham, Hanène Landolsi, Heidi Eliana Mateus, Carlos Martín Restrepo, Hatem Elghezal, Ali Saâd, Paul Laissue

Affiliation

¹ Unidad de Genética, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá, Colombia.

PMID: 21575944
DOI: 10.1016/j.fertnstert.2011.04.045

Abstract

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.

Publication types

Multicenter Study
Research Support, Non-U.S. Gov't

MeSH terms

Case-Control Studies
Colombia
Cyclin-Dependent Kinase Inhibitor p27 / genetics*
DNA Mutational Analysis*
Female
Gene Frequency
Genetic Predisposition to Disease
Humans
Mutation*
Phenotype
Primary Ovarian Insufficiency / genetics*
Tunisia

Substances

CDKN1B protein, human
Cyclin-Dependent Kinase Inhibitor p27