Prenatal diagnosis of premature centromere division–related mosaic variegated aneuploidy

Chen, Chih‐Ping; Lee, Chen‐Chi; Chen, Wenlin; Wang, Wayseen; Tzen, Chin‐Yuan

doi:10.1002/pd.763

Cited by 10 publications

(8 citation statements)

References 15 publications

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“…Yet, we only identified two previous reports on the prenatal diagnosis of PCS/MVA syndrome. 15,16 In our case, our genetic testing confirmed a combined heterozygote mutation of the BUB1B gene, which has previously been described. 2 As PCS/MVA syndrome has a poor prognosis, genetic testing to determine the PCS status of the parents is important to provide parents with necessary information for the planning of future possible pregnancies, including prenatal genetic testing for diagnosis.…”

Section: Discussionsupporting

confidence: 82%

“…Therefore, prenatal diagnosis of the PCA/MVA syndrome in Asian populations is important to inform effective post‐natal care. Yet, we only identified two previous reports on the prenatal diagnosis of PCS/MVA syndrome . In our case, our genetic testing confirmed a combined heterozygote mutation of the BUB1B gene, which has previously been described .…”

Section: Discussionsupporting

confidence: 80%

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

Yamaguchi

Akeno

et al. 2018

J of Obstet and Gynaecol

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Premature chromatid separation/mosaic variegated aneuploidy (PCS/MVA) syndrome is a rare genetic disorder. In this case report, we describe the prenatal diagnosis of PCS/MVA syndrome in a 24-year-old, gravida 1, para 1, woman who was referred to us in her second trimester due to fetal growth restriction and extreme microcephaly (-5.0 standard deviations). Amniocentesis and chromosomal analysis confirmed PCS in 80% of cultured fetal cells. PCS findings were positive in 9% of paternal cells and 11% of maternal cells, indicative that both were PCS carriers. Genetic analysis confirmed that the fetus carried a combined heterozygote of maternal G > A point mutation of the promoter area of the BUB1B gene and a paternal Alu sequence insertion between intron 8 and exon 9 of the BUB1B gene. As PCS/MVA syndrome is associated with the development of various malignancies in early life, prenatal diagnosis is important for effective planning of post-natal care.

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Section: Discussionsupporting

confidence: 82%

Section: Discussionsupporting

confidence: 80%

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

Yamaguchi

Akeno

et al. 2018

J of Obstet and Gynaecol

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“…Infants with the PCS syndrome show pre‐ and postnatal growth retardation, profound developmental delay, severe microcephaly, hypoplasia of the brain with Dandy–Walker complex or other malformations of the posterior fossa, cataracts, uncontrollable clonic seizures, and a high risk of malignancy including Wilms tumor, rhabdomyosarcoma, and leukaemia. Some two dozen probable or definite cases have been reported worldwide [Kajii et al, 2001; Chen et al, 2004]. The parents of the patients with the PCS syndrome are phenotypically normal, have 2%–47% lymphocytes in PCS, but are without MVA.…”

Section: Introductionmentioning

confidence: 99%

Monoallelic BUB1B mutations and defective mitotic‐spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome

Matsuura

Matsumoto

Morishima

et al. 2006

American J of Med Genetics Pt A

159

156

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Cancer-prone syndrome of premature chromatid separation (PCS syndrome) with mosaic variegated aneuploidy (MVA) is a rare autosomal recessive disorder characterized by growth retardation, microcephaly, childhood cancer, premature chromatid separation of all chromosomes, and mosaicism for various trisomies and monosomies. Biallelic BUB1B mutations were recently reported in five of eight families with MVA syndrome (probably identical to the PCS syndrome). We here describe molecular analysis of BUB1B (encoding BubR1) in seven Japanese families with the PCS syndrome. Monoallelic BUB1B mutations were found in all seven families studied: a single-base deletion (1833delT) in four families; and a splice site mutation, a nonsense mutation, and a missense mutation in one family each. Transcripts derived from the patients with the 1833delT mutation and the splice site mutation were significantly reduced, probably due to nonsense-mediated mRNA decay. No mutation was found in the second alleles in the seven families studied, but RT-PCR of BUB1B and Western blot analysis of BubR1 indicated a modest decrease of their transcripts. BubR1 in the cells from two patients showed both reduced protein expression and diminished kinetochore localization. Their expression level of p55cdc, a specific activator of anaphase-promoting complex, was normal but its kinetochore association was abolished. Microcell-mediated transfer of chromosome 15 (containing BUB1B) into the cells restored normal BubR1 levels, kinetochore localization of p55cdc, and the normal responses to colcemid treatment. These findings indicate the involvement of BubR1 in p55cdc-mediated mitotic checkpoint signaling, and suggest that >50% decrease in expression (or activity) of BubR1 is involved in the PCS syndrome.

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“…We report a patient with PCS/MVA syndrome with bilateral Wilms tumors who achieved a long‐term survival after bilateral nephrectomy and peritoneal dialysis. There have been 11 cases of PCS/MVA syndrome reported from Europe and the United States and 16 cases reported from Japan . The clinical findings vary widely among these patients; some in Europe and the United States have survived long‐term with mild symptoms, whereas most of the Japanese patients died by two years of age with severe symptoms, including Wilms tumor and rhabdomyosarcoma .…”

Section: Discussionmentioning

confidence: 99%

“…There have been 11 cases of PCS/MVA syndrome reported from Europe and the United States and 16 cases reported from Japan. [1][2][3][4][5][8][9][10][11][12][13][14][15] The clinical findings vary widely among these patients; some in Europe and the United States have survived long-term with mild symptoms, whereas most of the Japanese patients died by two years of age with severe symptoms, including Wilms tumor and rhabdomyosarcoma. 5 The discrepancy in their clinical courses was induced by differences in the type of genetic mutations of the BUB1B gene and the BubR1 expression.…”

Section: Discussionmentioning

confidence: 99%

Long‐term remission of bilateral Wilms tumors that developed from premature separation of chromatids/mosaic variegated aneuploidy syndrome due to bilateral nephrectomy and peritoneal dialysis

Ochiai

Yamada

Kimoto

et al. 2019

Pediatric Blood & Cancer

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We report a 38‐month‐old Japanese male with premature chromatid separation/mosaic variegated aneuploidy syndrome bearing biallelic BUB1B germline mutations who suffered from bilateral Wilms tumor. After right nephrectomy, dactinomycin monotherapy was administered for the left Wilms tumor; however, severe adverse reaction prevented the patient from receiving further chemotherapy. Left nephrectomy was then performed without postoperative chemotherapy. The patient survived for 15 months after bilateral nephrectomy without peritoneal relapse, metastasis of Wilms tumor, or the occurrence of rhabdomyosarcoma and maintained a good quality of life while receiving peritoneal dialysis at home.

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Prenatal diagnosis of premature centromere division–related mosaic variegated aneuploidy

Cited by 10 publications

References 15 publications

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

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

Monoallelic BUB1B mutations and defective mitotic‐spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome

Long‐term remission of bilateral Wilms tumors that developed from premature separation of chromatids/mosaic variegated aneuploidy syndrome due to bilateral nephrectomy and peritoneal dialysis

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