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

Autor:	Kato M; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan., Kato T; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.; Genome and Transcriptome Analysis Center, Fujita Health University, Toyoake, Japan., Hosoba E; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan., Ohashi M; Department of Obstetrics and Gynecology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan., Fujisaki M; Department of Obstetrics and Gynecology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan., Ozaki M; Department of Advanced Medicine, Division of Genomic Medicine, Medical Research Institute, Kanazawa Medical University, Ishikawa, Japan., Yamaguchi M; Department of Obstetrics and Gynecology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan., Sameshima H; Department of Obstetrics and Gynecology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan., Kurahashi H; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.; Genome and Transcriptome Analysis Center, Fujita Health University, Toyoake, Japan.
Jazyk:	angličtina
Zdroj:	Human genome variation [Hum Genome Var] 2017 Jun 08; Vol. 4, pp. 17021. Date of Electronic Publication: 2017 Jun 08 (Print Publication: 2017).
DOI:	10.1038/hgv.2017.21
Abstrakt:	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. Competing Interests: The authors declare no conflict of interest.
Databáze:	MEDLINE
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