在一名患有巴德-比德尔综合征且有暴力情绪爆发的患者中鉴定出一种新的突变。
A novel mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak.
作者信息
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
机构信息
Department of Pediatrics, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.
Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
出版信息
Hum Genome Var. 2017 Aug 10;4:17033. doi: 10.1038/hgv.2017.33. eCollection 2017.
We report a 10-year-old girl with Bardet-Biedl syndrome caused by a novel mutation in the () 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.
我们报告了一名10岁女孩，她患有由（）基因的新突变引起的巴德-比德尔综合征。她有多种畸形，包括面部畸形、轴后多指畸形、多囊肾和弱视。她表现出典型的巴德-比德尔综合征特征，包括伴有情绪爆发的智力残疾和轻度肥胖。全外显子组测序鉴定出与NM_024685.3:c.1677C>A [p.(Tyr559*)]和c.1974T>G [p.(Tyr658*)]的复合杂合突变。据我们所知，后一种突变以前从未被报道过。
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