Nueva variante del gen STAG3 causante de insuficiencia ovárica prematura

Gómez-Rojas, Susana; Aristizábal-Duque, Jorge Enrique; Muñoz-Fernández, Luisa Fernanda; Sarmiento-Ramón, María Paula; Pereira-Gómez, María del Pilar

doi:10.18597/rcog.3806

Cited by 2 publications

(1 citation statement)

References 19 publications

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“…Susana et al reported a 16-year-old patient with symptoms of primary amenorrhea, pubertal dysplasia and genital hypoplasia. Whole-exome sequencing results showed that she carried a novel STAG3 homozygous deletion mutation [ 106 ].…”

Section: Poi Causing Genesmentioning

confidence: 99%

DNA double-strand break genetic variants in patients with premature ovarian insufficiency

et al. 2023

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Premature ovarian insufficiency (POI) is a clinically heterogeneous disease that may seriously affect the physical and mental health of women of reproductive age. POI primarily manifests as ovarian function decline and endocrine disorders in women prior to age 40 and is an established cause of female infertility. It is crucial to elucidate the causative factors of POI, not only to expand the understanding of ovarian physiology, but also to provide genetic counselling and fertility guidance to affected patients. Factors leading to POI are multifaceted with genetic factors accounting for 7% to 30%. In recent years, an increasing number of DNA damage-repair-related genes have been linked with the occurrence of POI. Among them, DNA double-strand breaks (DSBs), one of the most damaging to DNA, and its main repair methods including homologous recombination (HR) and non-homologous end joining (NHEJ) are of particular interest. Numerous genes are known to be involved in the regulation of programmed DSB formation and damage repair. The abnormal expression of several genes have been shown to trigger defects in the overall repair pathway and induce POI and other diseases. This review summarises the DSB-related genes that may contribute to the development of POI and their potential regulatory mechanisms, which will help to further establish role of DSB in the pathogenesis of POI and provide theoretical guidance for the study of the pathogenesis and clinical treatment of this disease.

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Section: Poi Causing Genesmentioning

confidence: 99%

DNA double-strand break genetic variants in patients with premature ovarian insufficiency

et al. 2023

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Primary ovarian insufficiency: update on clinical and genetic findings

Federici,

Rossetti,

Moleri

et al. 2024

Front. Endocrinol.

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Primary ovarian insufficiency (POI) is a disorder of insufficient ovarian follicle function before the age of 40 years with an estimated prevalence of 3.7% worldwide. Its relevance is emerging due to the increasing number of women desiring conception late or beyond the third decade of their lives. POI clinical presentation is extremely heterogeneous with a possible exordium as primary amenorrhea due to ovarian dysgenesis or with a secondary amenorrhea due to different congenital or acquired abnormalities. POI significantly impacts non only on the fertility prospect of the affected women but also on their general, psychological, sexual quality of life, and, furthermore, on their long-term bone, cardiovascular, and cognitive health. In several cases the underlying cause of POI remains unknown and, thus, these forms are still classified as idiopathic. However, we now know the age of menopause is an inheritable trait and POI has a strong genetic background. This is confirmed by the existence of several candidate genes, experimental and natural models. The most common genetic contributors to POI are the X chromosome-linked defects. Moreover, the variable expressivity of POI defect suggests it can be considered as a multifactorial or oligogenic defect. Here, we present an updated review on clinical findings and on the principal X-linked and autosomal genes involved in syndromic and non-syndromic forms of POI. We also provide current information on the management of the premature hypoestrogenic state as well as on fertility preservation in subjects at risk of POI.

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Nueva variante del gen STAG3 causante de insuficiencia ovárica prematura

Cited by 2 publications

References 19 publications

DNA double-strand break genetic variants in patients with premature ovarian insufficiency

DNA double-strand break genetic variants in patients with premature ovarian insufficiency

Primary ovarian insufficiency: update on clinical and genetic findings

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