PT  - JOURNAL ARTICLE
AU  - Huijuan Zhu
AU  - Ziying Yang
AU  - Jun Sun
AU  - Wei Li
AU  - Hongbo Yang
AU  - Linjie Wang
AU  - Fengying Gong
AU  - Shi Chen
AU  - Lin Lu
AU  - Hui Miao
AU  - Xianxian Yuan
AU  - Hanting Liang
AU  - Ran Li
AU  - Hui Huang
AU  - Zhiyu Peng
AU  - Asan
AU  - Hui Pan
TI  - Diagnostic Whole Exome Sequencing in Patients with Short Stature
AID  - 10.1101/414987
DP  - 2018 Jan 01
TA  - bioRxiv
PG  - 414987
4099  - http://biorxiv.org/content/early/2018/09/12/414987.short
4100  - http://biorxiv.org/content/early/2018/09/12/414987.full
AB  - 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.