全外显子组测序揭示了一名未确诊生长障碍患者 CUL7 中的一个新突变。
Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder.
机构信息
Division of Endocrinology, Children's Hospital Boston, Boston, MA, 02115, USA.
出版信息
J Pediatr. 2013 Jan;162(1):202-4.e1. doi: 10.1016/j.jpeds.2012.07.055. Epub 2012 Sep 10.
Abstract
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 CUL7, one of the causative genes of 3-M syndrome. We discuss the utility of exome sequencing in diagnosing rare disorders.
摘要
我们报告了一例 19 岁男性生长障碍病例，尽管进行了广泛评估，但仍未明确病因。全外显子组测序显示 CUL7 中的一个新型纯合移码突变，CUL7 是 3-M 综合征的致病基因之一。我们讨论了外显子组测序在诊断罕见疾病中的应用。
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