Whole Exome Sequencing Reveals a Novel Mutation in CUL7 in a Patient with an Undiagnosed Growth Disorder

详细信息    查看全文

• 作者：Andrew Dauber ; MD ; MMSc¹ ; ² ; ^{andrew.dauber@childrens.harvard.edu} ; Joan Stoler ; MD³ ; Eliana Hechter ; PhD² ; Jason Safer ; BS¹ ; Joel N. Hirschhorn ; MD ; PhD¹ ; ² ; ³ ; ⁴ ; ⁵
• 刊名：The Journal of Pediatrics
• 出版年：2013
• 出版时间：January, 2013
• 年：2013
• 卷：162
• 期：1
• 页码：202-204.e1
• 全文大小：249 K

文摘

We present the case of a 19-year-old man with a growth disorder, which was undefined, despite extensive evaluation. Whole exome sequencing demonstrated a novel homozygous frameshift mutation in m>CUL7m>, one of the causative genes of 3-M syndrome. We discuss the utility of exome sequencing in diagnosing rare disorders.