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Diagnostic Whole Exome Sequencing in Patients with Short Stature

By Huijuan Zhu, Ziying Yang, Jun Sun, Wei Li, Hongbo Yang, Linjie Wang, Fengying Gong, Shi Chen, Lin Lu, Hui Miao, Xianxian Yuan, Hanting Liang, Ran Li, Hui Huang, Zhiyu Peng, Asan, Hui Pan

Posted 12 Sep 2018
bioRxiv DOI: 10.1101/414987

Short stature is among the most common reasons for children being referred to the pediatric endocrinology clinics. The cause of short stature is broad, in which genetic factors play a substantial role, especially in primary growth disorders. However, identifying the molecular causes for short stature remains as a challenge because of the high heterogeneity of the phenotypes. Here, whole exome sequencing (WES) was used to identify the genetic causes of short stature with unknown etiology for 20 patients aged from 1 to 16 years old. The genetic causes of short stature were identified in 9 of the 20 patients, corresponding to a molecular diagnostic rate of 45%. Notably, in 2 of the 9 patients identified with genetic causes, the diagnosed diseases based on WES are different from the original clinical diagnosis. Our results highlight the clinical utility of WES in the diagnosis of rare, high heterogeneity disorders.

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