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

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4 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 languageEnglish
Article number17021
JournalHuman Genome Variation
Volume4
DOIs
Publication statusPublished - 08-06-2017

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Genetics

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  • Cite this

    Kato, M., Kato, T., Hosoba, E., Ohashi, M., Fujisaki, M., Ozaki, M., Yamaguchi, M., Sameshima, H., & Kurahashi, H. (2017). PCS/MVA syndrome caused by an Alu insertion in the BUB1B gene. Human Genome Variation, 4, [17021]. https://doi.org/10.1038/hgv.2017.21