Publications by authors named "Abdelkader Heddar"
Article Synopsis
- Next-generation sequencing (NGS) has helped uncover genetic causes of primary ovarian insufficiency (POI), while the reasons for diminished ovarian reserve (DOR) are less understood.
- A 14-year-old patient with isolated DOR was found to have two frameshift mutations in the BRCA1 gene, but surprisingly showed no signs of Fanconi anemia (FA).
- Despite the absence of FA symptoms, the patient's cells exhibited high chromosomal fragility, and studies indicated a shortened version of the BRCA1 protein was produced, suggesting that BRCA1 is crucial for ovarian health and functioning.
Article Synopsis
- Diminished ovarian reserve (DOR) and primary ovarian insufficiency (POI) significantly contribute to female infertility, with a recent study finding a genetic cause in 29.3% of POI cases.
- A prospective study of 120 patients with unexplained DOR revealed a 24.2% diagnostic yield using advanced sequencing technology to identify genes related to various biological pathways.
- Findings indicated that impaired oocyte quality is linked to meiosis/DNA repair genes, and the study supports the need for genetic testing as a routine part of infertility diagnosis and a potential predictor for progression to POI.
Article Synopsis
- Chromosome 1p36 deletion syndrome (1p36DS) is a common genetic disorder resulting from a deletion on the short arm of chromosome 1, affecting 1 in every 5,000 to 10,000 live births in the U.S.
- The syndrome is characterized by a range of health issues including developmental delays, heart defects, and distinct facial features.
- This study analyzed 86 patients in France to compare the incidence of 1p36DS with other syndromes and examined how deletion locations influence specific symptoms and overall management of the disorder.
Article Synopsis
- Primary Ovarian Insufficiency (POI) affects 1-3.7% of women under 40, leading to issues like infertility and reduced lifespan, with many causes remaining unidentified; recent studies are exploring genetic links to POI through a large cohort of patients.* -
- The research included 375 patients and uncovered a 29.3% success rate for clinical genetic diagnosis of POI, discovering new pathogenic genes and pathways previously unlinked to POI, while confirming the role of several known genes associated with cancer susceptibility and other genetic disorders.* -
- This genetic understanding enables personalized medicine approaches, which aim to prevent or treat related health issues, predict ovarian reserve, and identify candidates for innovative therapies like in vitro
Article Synopsis
- Primary ovarian insufficiency (POI) affects about 1% of women under 40 and is linked to genetic mutations involved in meiosis and DNA repair, some also associated with tumors.
- Researchers discovered a new genetic variant in a patient with POI that affects the SPIDR gene, which is crucial for maintaining genome stability through its interaction with key proteins.
- This study provides the first evidence of chromosome instability due to a SPIDR defect, highlighting its role in DNA repair and its significance for understanding and managing POI.
Article Synopsis
- Primary ovarian insufficiency (POI) affects around 1% of women under 40, and genetic causes, including DNA repair variants, have been linked to this condition, with a case of isolated POI reported in a Turkish family.
- Exome sequencing revealed a specific BRCA2 variant in the patient, and various functional tests indicated that this variant affects genetic repair processes, although no cancer or syndromic traits were evident.
- The study broadens the understanding of BRCA2 mutations by linking a specific variant to isolated POI, which can influence patient management and genetic counseling strategies for those affected.
Article Synopsis
- Primary Ovarian Insufficiency (POI) impacts about 1% of women under 40, often leading to infertility and related health issues; recent findings link certain DNA repair genes to this condition.
- A study explored a case of familial POI in a Turkish family through exome sequencing, uncovering a novel mutation in the MCM8 gene in the patient and her mother, which resulted in significant DNA damage in their cells.
- The findings suggest a new syndromic form of POI related to the MCM8 variant, highlighting the need for genetic screening before growth hormone therapy and emphasizing long-term monitoring and fertility preservation options for affected family members.
Article Synopsis
- Primary ovarian insufficiency (POI) affects approximately 1-3.7% of women under forty and has unknown causes, but recent research identifies genetic factors, which are crucial for patient and family counseling.
- Whole exome sequencing in two sisters with non-syndromic POI revealed two novel mutations in the STAG3 gene, linked to critical functions in meiosis and sister chromatid cohesion.
- This is the first identified case of STAG3 mutations in a Caucasian family, highlighting the need for global genetic studies on POI to improve counseling and monitoring, as affected individuals may be at risk for ovarian tumors.
Article Synopsis
- Primary ovarian insufficiency (POI) affects about 1% of women under 40, with recent advances in genetic research highlighting its complex molecular causes and identifying many contributing genes.
- Genetic studies suggest that common genetic factors link POI to reproductive aging, allowing for better understanding and potential treatment options.
- New treatments, like activating dormant ovarian follicles through in vitro methods, have shown promising results in addressing fertility issues related to POI.
Familial solitary chondrosarcoma resulting from germline EXT2 mutation.
Genes Chromosomes Cancer
February 2017
Article Synopsis
- * A family study revealed a specific stop mutation in the EXT2 gene associated with isolated chondrosarcomas, primarily in the ribs, regardless of traditional signs of multiple osteochondromas on imaging.
- * This finding suggests that EXT2 mutations should be considered when evaluating patients for inherited chondrosarcoma risk, even if they don't show typical symptoms of multiple osteochondromas.