Proximal symphalangism and premature ovarian failure

Kadi, Nadira; Tahiri, Latifa; Maziane, Mariame; Mernissi, Fatima Zahra; Harzy, Taoufik

doi:10.1016/j.jbspin.2011.05.029

Cited by 6 publications

(5 citation statements)

References 11 publications

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“…Another condition including proximal symphalangism and POI is caused by mutations in NOG [82]. NOG protein is expressed in the ovaries and interacts with BMP, which plays an important role in ovarian function.…”

Section: Neurosensory Syndromesmentioning

confidence: 99%

Advances in the Molecular Pathophysiology, Genetics, and Treatment of Primary Ovarian Insufficiency

Huhtaniemi

Hovatta

Marca

et al. 2018

Trends in Endocrinology & Metabolism

142

137

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Primary ovarian insufficiency (POI) affects ∼1% of women before 40 years of age. The recent leap in genetic knowledge obtained by next generation sequencing (NGS) together with animal models has further elucidated its molecular pathogenesis, identifying novel genes/pathways. Mutations of >60 genes emphasize high genetic heterogeneity. Genome-wide association studies have revealed a shared genetic background between POI and reproductive aging. NGS will provide a genetic diagnosis leading to genetic/therapeutic counseling: first, defects in meiosis or DNA repair genes may predispose to tumors; and second, specific gene defects may predict the risk of rapid loss of a persistent ovarian reserve, an important determinant in fertility preservation. Indeed, a recent innovative treatment of POI by in vitro activation of dormant follicles proved to be successful.

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Section: Neurosensory Syndromesmentioning

confidence: 99%

Advances in the Molecular Pathophysiology, Genetics, and Treatment of Primary Ovarian Insufficiency

Huhtaniemi

Hovatta

Marca

et al. 2018

Trends in Endocrinology & Metabolism

142

137

View full text Add to dashboard Cite

show abstract

“…The eIF4ENIF1 gene mutations are linked to POI [84]. NOG gene mutations, which cause proximal symphalangism, are also associated with POI [85,86]. POLG gene mutations are connected to POI but are more commonly associated with neurological diseases [87].…”

Section: Mutations In Autosomal Genesmentioning

confidence: 99%

Primary Ovarian Insufficiency: Current Understanding and Diagnostic Approaches

Bhaskaran,

et al. 2023

J. Adv. Zool.

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Primary ovarian insufficiency (POI) is a medical condition where ovarian function stops prematurely, typically before the age of 40. This condition leads to infertility and produces symptoms similar to those experienced during menopause. Although the origins of POIs are diverse, genetic elements substantially influence their emergence. This assessment delves into the genetic facets of POI, covering genetic triggers, detection, and genetic consultation. We scrutinize the genes linked to POI and their function in ovarian activity, as well as the genetic deviations and mutations that foster POI onset. We also examine the challenges and limitations of genetic testing and counseling for POI and suggest ways to address these challenges. This review offers a thorough examination of the existing understanding of the genetic factors linked to Primary Ovarian Insufficiency (POI) emphasizing the critical need for further investigation in this field.

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“…POI is also the feature in proximal symphalangism women. 43,44 The forkhead box (FOX) family of transcription factor family includes 44 members that share a common DNAbinding domain of up to 110 amino acids. Many FOX genes have a regulatory role in ovarian function such as FOXL2 and FOXOs family.…”

Section: Autosomal Genes and Folliculogenesismentioning

confidence: 99%