Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature

被引：0

作者：

Xin Fan ^{[1
]}

Sen Zhao ^{[2
,3
]}

Chenxi Yu ^{[2
,3
]}

Di Wu ^{[4
]}

Zihui Yan ^{[2
,3
]}

Lijun Fan ^{[4
]}

Yanning Song ^{[4
]}

Yi Wang ^{[4
]}

Chuan Li ^{[5
,6
]}

Yue Ming ^{[7
]}

Baoheng Gui ^{[1
]}

Yuchen Niu ^{[8
]}

Xiaoxin Li ^{[8
]}

Xinzhuang Yang ^{[8
]}

Shiyu Luo ^{[3
]}

Qiang Zhang ^{[6
]}

Xiuli Zhao ^{[9
]}

Hui Pan ^{[10
]}

Mei Li ^{[10
]}

Weibo Xia ^{[10
]}

Guixing Qiu ^{[2
,3
,11
]}

Pengfei Liu ^{[2
,12
]}

Shuyang Zhang ^{[3
,13
]}

Jianguo Zhang ^{[2
,11
]}

Zhihong Wu ^{[3
,8
,11
]}

James R. Lupski ^{[14
,15
,16
,17
]}

Jennifer E. Posey ^{[14
]}

Shaoke Chen ^{[1
]}

Chunxiu Gong ^{[4
]}

Nan Wu ^{[2
,3
,11
,14
]}

机构：

[1] Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences

[2] Key Laboratory of Big Data for Spinal Deformities, Chinese Academy of Medical Sciences

[3] Baylor Genetics

[4] Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences

[5] Department of Molecular and Human Genetics, Baylor College of Medicine 15. Departments of Pediatrics, Baylor College of Medicine 16. Texas Chi

[6] Department of Pediatrics, The Second Affiliated Hospital of Guangxi Medical University 2. Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medi

[7] Beijing Key Laboratory for Genetic Research of Skeletal Deformity

[8] Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health

[9] Department of Pediatric Endocrine and Metabolism, Maternal and Child Health Hospital of Guangxi

[10] Laboratory of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi

[11] PET-CT Center, National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College 8. Medical Research Center, Peking Union Medical College Hospital, Peking U

来源：

Journal of Genetics and Genomics | 2021年 / 48卷 / 05期

基金：

北京市自然科学基金; 中央高校基本科研业务费专项资金资助; 美国国家卫生研究院; 中国国家自然科学基金;

关键词：

D O I：

暂无

中图分类号：

R725.8 [小儿内分泌腺疾病及代谢病];

学科分类号：

摘要：

Short stature is among the most common endocrinological disease phenotypes of childhood and may occur as an isolated finding or in conjunction with other clinical manifestations. Although the diagnostic utility of clinical genetic testing in short stature has been implicated, the genetic architecture and the utility of genomic studies such as exome sequencing(ES) in a sizable cohort of patients with short stature have not been investigated systematically. In this study, we recruited 561 individuals with short stature from two centers in China during a 4-year period. We performed ES for all patients and available parents. All patients were retrospectively divided into two groups: an isolated short stature group(group I, n = 257) and an apparently syndromic short stature group(group II, n = 304). Causal variants were identified in 135 of 561(24.1%) patients. In group I, 29 of 257(11.3%) of the patients were solved by variants in 24 genes. In group II, 106 of 304(34.9%) patients were solved by variants in 57 genes. Genes involved in fundamental cellularprocess played an important role in the genetic architecture of syndromic short stature. Distinct genetic architectures and pathophysiological processes underlie isolated and syndromic short stature.

引用

页码：396 / 402

页数：7

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