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

研究成果: Article査読

2 被引用数 (Scopus)

抄録

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.

本文言語English
論文番号17033
ジャーナルHuman Genome Variation
4
DOI
出版ステータスPublished - 2017 8 10

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Molecular Biology

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