Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation

Al-Agha, Abdulmoein Eid; Ahmed, Ihab Abdulhamed; Nuebel, Esther; Moriwaki, Mika; Moore, Barry; Peacock, K. A.; Mosbruger, Tim; Neklason, Deborah W.; Jorde, Lynn B.; Yandell, Mark; Welt, Corrine K.

doi:10.1210/jc.2017-01966

Cited by 55 publications

(36 citation statements)

References 37 publications

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“…In particular, MCM8 , a DNA DSB repair gene, has been implicated in the timing of menopause onset; a GWAS of about 70,000 women implicated MCM8 as well as HELB and SLC04A1 in the process of ovarian aging 38 . Mutations in PSMC3IP , a gene regulating meiosis of germ cells and DSB repair, have been associated with the phenotype of primary amenorrhea and POI in a consanguineous family of four sisters with ovarian dysgenesis and a brother with azoospermia 42 . Another interesting finding that overlaps two categories of POI—syndromic and non-syndromic (reviewed in 32 )—is the recent finding of two missense variants of FANCA (the gene responsible for Fanconi anemia, or FA) in non-syndromic patients.…”

Section: Recent Advances In the Field Of Poimentioning

confidence: 99%

Recent advances in understanding primary ovarian insufficiency

2020

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Primary ovarian insufficiency (POI) is an uncommon yet devastating occurrence that results from a premature depletion of the ovarian pool of primordial follicles. Our understanding of both putative and plausible mechanisms underlying POI, previously considered to be largely “idiopathic”, has been furthered over the past several years, largely due to advances in the field of genetics and through expansion of translational models for experimental research. In this review, our goal is to familiarize the multidisciplinary readers of the F1000 platform with the strides made in the field of reproductive medicine that hold both preventative and therapeutic implications for those women who are at risk for or who have POI.

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Section: Recent Advances In the Field Of Poimentioning

confidence: 99%

Recent advances in understanding primary ovarian insufficiency

2020

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“…Recent experiments have con irmed that mutations in the SYCE1 subunit of the complex can lead to the production of human POI. Recent studies have also found that mutations in genes required for homologous recombination, such as HFM1 and PSMC3IP genes, may lead to the production of human POI [36]. Besides, it was reported that XRCC gene mutation can also lead to POI through the effect of meiotic homologous recombination, but the reporter did not conduct further research [37].…”

Section: Gene Abnormalities: Gene Abnormalities Can Affectmentioning

confidence: 99%

Premature ovarian insufficiency in children: Etiology, clinical management and treatment

Yuan¹,

Wang²

2020

J Adv Pediatr Child Health

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Premature ovarian insufficiency (POI) is a rare disease, especially in children and adolescents. It was previously called premature ovarian failure (POF). It can be manifested as delayed puberty, primary or secondary amenorrhea that occurred before the age of 40 years with no less than two abnormal serum sex hormones (low estrogen and high gonadotropin). It is reported that the incidence rate is 1% at the age of 40 years and 0.01% at the age of 20 years. Although the disease usually occurs in middle-aged and elderly women, clinical practice in recent years has shown that it has also been found in adolescents and even children. It is generally believed that the etiology of POI includes genetic factors, immune factors, and iatrogenic factors. So far, several genetic mutations that may cause POI have been found clinically, but the etiology of 90% of POI is still unknown. In recent years, the incidence of POI in children and adolescents has increased, and there are more urgent requirements for its early diagnosis, treatment, and clinical management. Based on this, this article will mainly review the research progress of the etiology, treatment, and clinical management of POI in children and adolescents.

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“…Recently, Al-Agha et al identified a homozygous stop gain mutation in exon 6 of the PSMC3IP gene in an azoospermic man from a consanguineous family. This mutation was also present in his four sisters – all of whom suffered from primary ovarian insufficiency [132]. PSMC3IP is strongly expressed in testis of humans and mice.…”

Section: Causative Gene Mutations In Noamentioning

confidence: 99%

Genetic defects in human azoospermia

Ghieh

Mitchell

Mandon‐Pepin

et al. 2019

Basic Clin. Androl.

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As with many other diseases, genetic testing in human azoospermia was initially restricted to karyotype analyses (leading to diagnostic chromosome rearrangement tests for Klinefelter and other syndromes). With the advent of molecular biology in the 1980s, genetic screening was broadened to analyses of Y chromosome microdeletions and the gene coding for the cystic fibrosis transmembrane conductance regulator ( CFTR ). Decades later, the emergence of whole-genome techniques has led to the identification of other genetic defects associated with human azoospermia. Although TEX11 and ADGRG2 defects are frequently described in men with azoospermia, most of the causal gene defects found to date are private (i.e. identified in a small number of consanguineous families). Here, we provide an up-to-date overview of all the types of genetic defects known to be linked to human azoospermia and try to give clinical practice guidelines according to azoospermia phenotype. Along with homozygous mutations, polymorphisms and epigenetic defects are also briefly discussed. However, as these variations predispose to azoospermia, a specific review will be needed to compile data on all the particular genetic variations reported in the literature.

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Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation

Cited by 55 publications

References 37 publications

Recent advances in understanding primary ovarian insufficiency

Recent advances in understanding primary ovarian insufficiency

Premature ovarian insufficiency in children: Etiology, clinical management and treatment

Genetic defects in human azoospermia

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