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

Research output: Contribution to journal › Article › peer-review

10 Citations (Scopus)

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.

Original language	English
Article number	17021
Journal	Human Genome Variation
Volume	4
DOIs	https://doi.org/10.1038/hgv.2017.21
Publication status	Published - 08-06-2017

All Science Journal Classification (ASJC) codes

Biochemistry
Molecular Biology
Genetics

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10.1038/hgv.2017.21

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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.",

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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

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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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JO - Human Genome Variation

JF - Human Genome Variation

M1 - 17021

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

Abstract

All Science Journal Classification (ASJC) codes

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