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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Detalles Bibliográficos
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
Descripción
Sumario: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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