A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak

Tatsuyuki Ohto, Takashi Enokizono, Ryuta Tanaka, Mai Tanaka, Hisato Suzuki, Aiko Sakai, Kazuo Imagawa, Hiroko Fukushima, Takashi Fukushima, Ryo Sumazaki, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki

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2 Citations (Scopus)

Abstract

We report a 10-year-old girl with Bardet-Biedl syndrome caused by a novel mutation in the Bardet-Biedl syndrome 10 (BBS10) gene. She had multiple malformations, including a dysmorphic face, postaxial polydactyly, polycystic kidney and amblyopia. She presented with typical BBS features, including intellectual disability with emotional outbursts and mild obesity. Whole-exome sequencing identified compound heterozygous mutations with NM-024685.3:c.1677C>A [p.(Tyr559∗)] and c.1974T>G [p.(Tyr658∗)]. To our knowledge, the latter mutation has never been reported previously.

Original languageEnglish
Article number17033
JournalHuman Genome Variation
Volume4
DOIs
Publication statusPublished - 2017 Aug 10

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Molecular Biology

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    Ohto, T., Enokizono, T., Tanaka, R., Tanaka, M., Suzuki, H., Sakai, A., Imagawa, K., Fukushima, H., Fukushima, T., Sumazaki, R., Uehara, T., Takenouchi, T., & Kosaki, K. (2017). A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak. Human Genome Variation, 4, [17033]. https://doi.org/10.1038/hgv.2017.33