CITED2 mutations potentially cause idiopathic premature ovarian failure

Related Experiment Video

Updated: May 21, 2026

In Vivo and Ex Vivo Approaches to Study Ovarian Cancer Metastatic Colonization of Milky Spot Structures in Peritoneal Adipose
13:04

In Vivo and Ex Vivo Approaches to Study Ovarian Cancer Metastatic Colonization of Milky Spot Structures in Peritoneal Adipose

Published on: October 14, 2015

Dora Janeth Fonseca1, Diego Ojeda, Besma Lakhal

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

Translational Research : the Journal of Laboratory and Clinical Medicine
|June 20, 2012
PubMed

Insights

Mutations in the CITED2 gene may contribute to premature ovarian failure (POF). This study found a potentially harmful CITED2 variant in one POF patient, suggesting a role in female reproductive health.

Area of Science:

  • Genetics
  • Reproductive Biology
  • Developmental Biology

Background:

  • Recent studies identified gonadal development anomalies in mice lacking the Cited2 gene.
  • These anomalies included ectopic cell migration and delayed sex determination in female mice.
  • This suggests a potential role for Cited2 in human female gonad development.

Purpose of the Study:

  • To investigate if mutations in the human CITED2 gene are a common cause of premature ovarian failure (POF).
  • To analyze the CITED2 gene in patients diagnosed with POF and in a control group of fertile women.

Main Methods:

  • Direct sequencing of the complete open reading frame of the CITED2 gene.
  • Analysis of 139 patients with POF and 290 control women.
  • In silico analysis of identified variants.

Main Results:

  • Identified 8 variants in CITED2, with 7 being novel.
  • One nonsynonymous variant (c.604C>A, p.Pro202Thr) was found exclusively in a single POF patient.
  • In silico analysis suggested this specific mutation may have a deleterious effect on protein function.

Conclusions:

  • Mutations in the CITED2 gene are potentially implicated in the pathogenesis of premature ovarian failure (POF).
  • Further research is warranted to confirm the role of CITED2 mutations in POF development.

More Related Videos

Fertility Preservation in Patients with Severe Ovarian Dysfunction12:03

Fertility Preservation in Patients with Severe Ovarian Dysfunction

Published on: March 25, 2021

Related Concept Videos

Nondisjunction01:21

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...
Meiosis II02:02

Meiosis II

Meiosis II entails cell division and segregation of the sister chromatids, resulting in the production of four unique haploid gametes. The steps for meiosis II are similar to mitosis, except that meiosis II occurs in haploid cells, whereas mitosis occurs in diploid cells.
The timing and cell division patterns of meiosis differ between males and females. In male meiosis, the centrosomes are part of the formation of the meiotic spindle. However, in oocytes, including that of humans, Drosophila,...
Meiosis I03:09

Meiosis I

Meiosis is the division of a diploid cell into haploid cells forming sperm and eggs in animals through differentiation. Meiosis I is the first stage of meiosis, where the genetic recombination of homologous chromosomes and the reduction of the ploidy level by half occurs.
Prophase I is the most extended and complex step of meiosis I characterized by synapsis, chromosome pairing, and recombination of the homologous chromosomes. This process is facilitated by a proteinaceous structure called the...
Oogenesis02:07

Oogenesis

In human women, oogenesis produces one mature egg cell or ovum for every precursor cell that enters meiosis. This process differs in two unique ways from the equivalent procedure of spermatogenesis in males. First, meiotic divisions during oogenesis are asymmetric, meaning that a large oocyte (containing most of the cytoplasm) and minor polar body are produced as a result of meiosis I, and again following meiosis II. Since only oocytes will go on to form embryos if fertilized, this unequal...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...