A novel BBS10 mutation identified in a patient with Bardet–Biedl syndrome with a violent emotional outbreak | Zendy

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

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

Author(s) -

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

Publication year - 2017

Publication title -

human genome variation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.796

H-Index - 14

ISSN - 2054-345X

DOI - 10.1038/hgv.2017.33

Subject(s) - bardet–biedl syndrome , outbreak , medicine , genetics , pediatrics , biology , virology , phenotype , gene

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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