特发性身材矮小的全外显子组测序：影响生长的罕见突变
Whole-Exome Sequencing in Idiopathic Short Stature: Rare Mutations Affecting Growth.
作者信息
Noorian Shahab, Khonsari Nami Mohammadian, Savad Shahram, Hakak-Zargar Benyamin, Voth Tessa, Kabir Koroush
机构信息
Department of Pediatrics, School of Medicine, Alborz University of Medical Sciences, Karaj, Iran.
Student Research Committee, School of Medicine, Alborz University of Medical Sciences, Karaj, Iran.
出版信息
J Pediatr Genet. 2020 Sep 18;10(4):284-291. doi: 10.1055/s-0040-1716400. eCollection 2021 Dec.
Idiopathic short stature (ISS) is a common diagnosis of exclusion in patients with short stature (SS). In this article, we aimed to identify the genetic causes of SS in patients with ISS and investigate treatment options. Fourteen children with diagnosis of ISS were identified, and whole-exome sequencing (WES) was subsequently conducted on blood-derived DNA. Five patients were correctly diagnosed with ISS and four had rare mutations that have not been previously reported. Four patients had mutations known to cause SS and one had a mutation that was known not to affect height. WES can help identify rare mutations implicated in ISS.
特发性身材矮小（ISS）是身材矮小（SS）患者常见的排除性诊断。在本文中，我们旨在确定ISS患者中SS的遗传原因并研究治疗方案。确定了14名诊断为ISS的儿童，随后对血液来源的DNA进行了全外显子组测序（WES）。5例患者被正确诊断为ISS，4例有先前未报道的罕见突变。4例患者有已知导致SS的突变，1例有已知不影响身高的突变。WES有助于识别与ISS相关的罕见突变。
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