Prenatal diagnosis of premature chromatid separation/mosaic variegated aneuploidy (PCS/MVA) syndrome

Yamaguchi, Tomoko; Yamaguchi, Masaru; Akeno, Keiko; Fujisaki, Midori; Sumiyoshi, Kaeko; Ohashi, Masanao; Sameshima, Hiroshi; Ozaki, Mamoru; Kato, Takema; Hosoba, Eriko; Kurahashi, Hiroki

doi:10.1111/jog.13647

Cited by 10 publications

(9 citation statements)

References 16 publications

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“…If both members of a couple are carriers, they may have a child with PCS/MVA syndrome or have a miscarriage. It is crucial to adequately prepare for the postnatal care of children with PCS/MVA syndrome, and several reports discuss the prenatal diagnosis of PCS [ 10 , 11 ]. If there is a possibility that a fetus has PCS/MVA syndrome, prenatal diagnosis becomes valuable for planning postnatal care in advance.…”

Section: Discussionmentioning

confidence: 99%

Premature Chromatid Separation Trait Found During the Diagnosis of Male Infertility: A Case Report

Kawamura,

Chiba,

Yamashita

et al. 2024

Cureus

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Premature chromatid separation (PCS)/mosaic variegated aneuploidy (MVA) syndrome is a rare chromosome instability syndrome. This syndrome is inherited in an autosomal recessive pattern. Although heterozygous carriers of a monoallelic mutation reportedly have a normal phenotype, PCS-positive cells are found at a higher rate in such carriers than in the general population. We herein report a case in which a PCS carrier was incidentally diagnosed during investigation of male infertility. A diagnosis of nonobstructive azoospermia was made, and chromosome analysis revealed the PCS trait in 81 of 200 cells (40.5%), indicating that the patient was a PCS carrier. PCS carriers are not uncommon, and if both members of a couple are carriers, there would be a 25% likelihood of the child presenting with PCS syndrome. Therefore, a clinical psychological approach that includes genetic counseling should be considered before proceeding to microsurgical testicular sperm extraction.

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Section: Discussionmentioning

confidence: 99%

Premature Chromatid Separation Trait Found During the Diagnosis of Male Infertility: A Case Report

Kawamura,

Chiba,

Yamashita

et al. 2024

Cureus

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“…In Table 1 [ 4 – 23 ], we report clinical features of our patient and 30 MVA cases from the literature, while in Table 2 , we list four known cases prenatally diagnosed with MVA1 with intrauterine fetal death or termination of pregnancy [ 24 – 27 ]. In the group of 30 MVA patients, pre-postnatal growth retardation, microcephaly, ID/DD, and epileptic seizures occurred in 93.5%, 87%, 77.4%, and 45.1% of the cases, respectively.…”

Section: Discussionmentioning

confidence: 99%

Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome

et al. 2022

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Background The BUB 1 mitotic checkpoint serine/threonine kinase B (BUB1B) gene encodes a key protein in the mitotic spindle checkpoint, which acts as a surveillance mechanism, crucial for the maintenance of the correct chromosome number during cell deviation. Mutations of BUB1B gene are linked to mosaic variegated aneuploidy 1 (MVA1) syndrome, a rare autosomal recessive disorder characterized by widespread mosaic aneuploidies, involving different chromosomes and tissues. MVA1 is clinically characterized by intrauterine growth restriction, post-natal growth retardation, and severe neurologic impairment including microcephaly, developmental delay/intellectual disability, epileptic seizures, and generalized hypotonia. Malignancies are also serious sequelae associated with the disorder. We reported on a case of two-year-old Italian girl with MVA1 who shows severe neurologic impairment, microcephaly and epileptic seizures. Materials and methods Clinical data collection and genetic diagnosis of the patient were assessed. Mutational analysis covers the chromosomal microarray analysis, the gene methylation pattern studied using the methylation-specific multiplex ligation-dependent probe amplification, and the family-based Whole Exome Sequencing (WES). A literature research based on reported cases of MVA and premature chromatid separation was also included. Results Karyotyping has revealed 12% of mosaics in the patient who carries a novel variant in BUB1B gene (c.2679A > T, p.Arg893Ser) detected by WES. Thirty-one cases of MVA1 including the present report, and four prenatally diagnosed cases with MVA1 were selected and inspected. Conclusion Clinical and genetic findings reported in the girl strongly suggest a new MVA1 genotype–phenotype correlation and lead to a reappraisal of a severe syndrome. Diagnosis and in-depth follow-up provided worthwhile data.

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“…These age-related aneuploidies, and consequent infertility, have been associated with the progressive loss of cohesins proteins, such as SGO2 [36]. Mutations in genes involved in mitotic checkpoints, like BUB1B and CEP57, can lead to multiple chromosomal alterations resulting in defective oocytes maturation, embryonic death and miscarriages [37,38]. Several studies have highlighted the role of genes involved in DNA repair in follicles maturation and quality, reproductive aging and the age at menopause [30].…”

Section: Genetic Diseasesmentioning

confidence: 99%

Unraveling the Balance between Genes, Microbes, Lifestyle and the Environment to Improve Healthy Reproduction

D’Argenio

Dittfeld²,

Lazzeri³

et al. 2021

Genes

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Humans’ health is the result of a complex and balanced interplay between genetic factors, environmental stimuli, lifestyle habits, and the microbiota composition. The knowledge about their single contributions, as well as the complex network linking each to the others, is pivotal to understand the mechanisms underlying the onset of many diseases and can provide key information for their prevention, diagnosis and therapy. This applies also to reproduction. Reproduction, involving almost 10% of our genetic code, is one of the most critical human’s functions and is a key element to assess the well-being of a population. The last decades revealed a progressive decline of reproductive outcomes worldwide. As a consequence, there is a growing interest in unveiling the role of the different factors involved in human reproduction and great efforts have been carried out to improve its outcomes. As for many other diseases, it is now clear that the interplay between the underlying genetics, our commensal microbiome, the lifestyle habits and the environment we live in can either exacerbate the outcome or mitigate the adverse effects. Here, we aim to analyze how each of these factors contribute to reproduction highlighting their individual contribution and providing supporting evidence of how to modify their impact and overall contribution to a healthy reproductive status.

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Prenatal diagnosis of premature chromatid separation/mosaic variegated aneuploidy (PCS/MVA) syndrome

Cited by 10 publications

References 16 publications

Premature Chromatid Separation Trait Found During the Diagnosis of Male Infertility: A Case Report

Premature Chromatid Separation Trait Found During the Diagnosis of Male Infertility: A Case Report

Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome

Unraveling the Balance between Genes, Microbes, Lifestyle and the Environment to Improve Healthy Reproduction

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