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

Research output: Contribution to journalArticle

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

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Bardet-Biedl Syndrome
Bulletin boards
Disease Outbreaks
Genes
Mutation
Exome
Polycystic Kidney Diseases
Amblyopia
Intellectual Disability
Obesity
Bardet-Biedl Syndrome 10

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Molecular Biology

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A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak. / Ohto, Tatsuyuki; Enokizono, Takashi; Tanaka, Ryuta; Tanaka, Mai; Suzuki, Hisato; Sakai, Aiko; Imagawa, Kazuo; Fukushima, Hiroko; Fukushima, Takashi; Sumazaki, Ryo; Uehara, Tomoko; Takenouchi, Toshiki; Kosaki, Kenjiro.

In: Human Genome Variation, Vol. 4, 17033, 10.08.2017.

Research output: Contribution to journalArticle

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, vol. 4, 17033. https://doi.org/10.1038/hgv.2017.33
Ohto, Tatsuyuki ; Enokizono, Takashi ; Tanaka, Ryuta ; Tanaka, Mai ; Suzuki, Hisato ; Sakai, Aiko ; Imagawa, Kazuo ; Fukushima, Hiroko ; Fukushima, Takashi ; Sumazaki, Ryo ; Uehara, Tomoko ; Takenouchi, Toshiki ; Kosaki, Kenjiro. / A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak. In: Human Genome Variation. 2017 ; Vol. 4.
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AU - Suzuki, Hisato

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AU - Imagawa, Kazuo

AU - Fukushima, Hiroko

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