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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.

SUBMITTER: Ohto T

PROVIDER: S-EPMC5550758 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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

Ohto Tatsuyuki T Enokizono Takashi T Tanaka Ryuta R Tanaka Mai M Suzuki Hisato H Sakai Aiko A Imagawa Kazuo K Fukushima Hiroko H Fukushima Takashi T Sumazaki Ryo R Uehara Tomoko T Takenouchi Toshiki T Kosaki Kenjiro K

Human genome variation 20170810

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 [ ...[more]

PMID: 28808579

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Identification of a Novel Homozygous Mutation in BBS10 Gene in an Iranian Family with Bardet-Biedl Syndrome.

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