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

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...

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Autores principales: Kato, Maki, Kato, Takema, Hosoba, Eriko, Ohashi, Masanao, Fujisaki, Midori, Ozaki, Mamoru, Yamaguchi, Masatoshi, Sameshima, Hiroshi, Kurahashi, Hiroki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5462940/
https://www.ncbi.nlm.nih.gov/pubmed/28611924
http://dx.doi.org/10.1038/hgv.2017.21
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author Kato, Maki
Kato, Takema
Hosoba, Eriko
Ohashi, Masanao
Fujisaki, Midori
Ozaki, Mamoru
Yamaguchi, Masatoshi
Sameshima, Hiroshi
Kurahashi, Hiroki
author_facet Kato, Maki
Kato, Takema
Hosoba, Eriko
Ohashi, Masanao
Fujisaki, Midori
Ozaki, Mamoru
Yamaguchi, Masatoshi
Sameshima, Hiroshi
Kurahashi, Hiroki
author_sort Kato, Maki
collection PubMed
description 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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spelling pubmed-54629402017-06-13 PCS/MVA syndrome caused by an Alu insertion in the BUB1B gene Kato, Maki Kato, Takema Hosoba, Eriko Ohashi, Masanao Fujisaki, Midori Ozaki, Mamoru Yamaguchi, Masatoshi Sameshima, Hiroshi Kurahashi, Hiroki Hum Genome Var Data Report 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. Nature Publishing Group 2017-06-08 /pmc/articles/PMC5462940/ /pubmed/28611924 http://dx.doi.org/10.1038/hgv.2017.21 Text en Copyright © 2017 The Author(s) http://creativecommons.org/licenses/by-nc-nd/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/
spellingShingle Data Report
Kato, Maki
Kato, Takema
Hosoba, Eriko
Ohashi, Masanao
Fujisaki, Midori
Ozaki, Mamoru
Yamaguchi, Masatoshi
Sameshima, Hiroshi
Kurahashi, Hiroki
PCS/MVA syndrome caused by an Alu insertion in the BUB1B gene
title PCS/MVA syndrome caused by an Alu insertion in the BUB1B gene
title_full PCS/MVA syndrome caused by an Alu insertion in the BUB1B gene
title_fullStr PCS/MVA syndrome caused by an Alu insertion in the BUB1B gene
title_full_unstemmed PCS/MVA syndrome caused by an Alu insertion in the BUB1B gene
title_short PCS/MVA syndrome caused by an Alu insertion in the BUB1B gene
title_sort pcs/mva syndrome caused by an alu insertion in the bub1b gene
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5462940/
https://www.ncbi.nlm.nih.gov/pubmed/28611924
http://dx.doi.org/10.1038/hgv.2017.21
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