PCS/MVA syndrome caused by an Alu insertion in the BUB1B gene

Maki Kato; Takema Kato; Eriko Hosoba; Masanao Ohashi; Midori Fujisaki; Mamoru Ozaki; Masatoshi Yamaguchi; Hiroshi Sameshima; Hiroki Kurahashi

doi:10.1038/hgv.2017.21

PCS/MVA syndrome caused by an Alu insertion in the BUB1B gene

Maki Kato, Takema Kato, Eriko Hosoba, Masanao Ohashi, Midori Fujisaki, Mamoru Ozaki, Masatoshi Yamaguchi, Hiroshi Sameshima, Hiroki Kurahashi

研究成果: ジャーナルへの寄稿 › 学術論文 › 査読

10 被引用数 (Scopus)

抄録

We report a case of premature chromatid separation/mosaic variegated aneuploidy syndrome identified by microcephaly on fetal ultrasound and confirmed by cytogenetic analysis of amniotic fluid. Initial mutational analysis of the entire coding region of the BUB1B gene failed to identify any causative mutations. However, further analysis revealed a known compound heterozygous mutation in the upstream region of this gene and a novel Alu insertion mutation in the intron.

本文言語	英語
論文番号	17021
ジャーナル	Human Genome Variation
巻	4
DOI	https://doi.org/10.1038/hgv.2017.21
出版ステータス	出版済み - 08-06-2017

All Science Journal Classification (ASJC) codes

生化学
分子生物学
遺伝学

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10.1038/hgv.2017.21

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引用スタイル

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title = "PCS/MVA syndrome caused by an Alu insertion in the BUB1B gene",

abstract = "We report a case of premature chromatid separation/mosaic variegated aneuploidy syndrome identified by microcephaly on fetal ultrasound and confirmed by cytogenetic analysis of amniotic fluid. Initial mutational analysis of the entire coding region of the BUB1B gene failed to identify any causative mutations. However, further analysis revealed a known compound heterozygous mutation in the upstream region of this gene and a novel Alu insertion mutation in the intron.",

author = "Maki Kato and Takema Kato and Eriko Hosoba and Masanao Ohashi and Midori Fujisaki and Mamoru Ozaki and Masatoshi Yamaguchi and Hiroshi Sameshima and Hiroki Kurahashi",

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doi = "10.1038/hgv.2017.21",

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AU - Kato, Maki

AU - Kato, Takema

AU - Hosoba, Eriko

AU - Ohashi, Masanao

AU - Fujisaki, Midori

AU - Ozaki, Mamoru

AU - Yamaguchi, Masatoshi

AU - Sameshima, Hiroshi

AU - Kurahashi, Hiroki

PY - 2017/6/8

Y1 - 2017/6/8

N2 - We report a case of premature chromatid separation/mosaic variegated aneuploidy syndrome identified by microcephaly on fetal ultrasound and confirmed by cytogenetic analysis of amniotic fluid. Initial mutational analysis of the entire coding region of the BUB1B gene failed to identify any causative mutations. However, further analysis revealed a known compound heterozygous mutation in the upstream region of this gene and a novel Alu insertion mutation in the intron.

AB - We report a case of premature chromatid separation/mosaic variegated aneuploidy syndrome identified by microcephaly on fetal ultrasound and confirmed by cytogenetic analysis of amniotic fluid. Initial mutational analysis of the entire coding region of the BUB1B gene failed to identify any causative mutations. However, further analysis revealed a known compound heterozygous mutation in the upstream region of this gene and a novel Alu insertion mutation in the intron.

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VL - 4

JO - Human Genome Variation

JF - Human Genome Variation

M1 - 17021

ER -

PCS/MVA syndrome caused by an Alu insertion in the BUB1B gene

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All Science Journal Classification (ASJC) codes

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