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

doi:10.1038/hgv.2017.33

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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3 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 language	English
Article number	17033
Journal	Human Genome Variation
Volume	4
DOIs	https://doi.org/10.1038/hgv.2017.33
Publication status	Published - 2017 Aug 10

ASJC Scopus subject areas

Biochemistry
Genetics
Molecular Biology

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1038/hgv.2017.33

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

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.",

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

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doi = "10.1038/hgv.2017.33",

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T1 - A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak

AU - Ohto, Tatsuyuki

AU - Enokizono, Takashi

AU - Tanaka, Ryuta

AU - Tanaka, Mai

AU - Suzuki, Hisato

AU - Sakai, Aiko

AU - Imagawa, Kazuo

AU - Fukushima, Hiroko

AU - Fukushima, Takashi

AU - Sumazaki, Ryo

AU - Uehara, Tomoko

AU - Takenouchi, Toshiki

AU - Kosaki, Kenjiro

PY - 2017/8/10

Y1 - 2017/8/10

N2 - 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.

AB - 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.

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

Abstract

ASJC Scopus subject areas

UN SDGs

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