期刊论文

Yang, Yongjia;Zhu, Yimin

英文

Genetics in Medicine

1098-3600

2019

21

11

2577-2585

10.1038/s41436-019-0552-8

This work was supported by grants from the National Natural Science Foundation of China (81271946 to Y. Zhu and 31501017 to Y.Y.) and Hunan Health Commission Research Fund (B2019019). The authors are grateful to the family members who participated in this study. We thank Rui Zhao (from Hunan Children’s Hospital, Changsha City, China) and Zhong Nanbert (from Institute for Basic Research in Developmental Disabilities, Staten Island, NY, United States) for their suggestions and help in this study. Special thanks to Xun Li, Zhenqing Luo, and Shiting Xiang (Hunan Children’s Hospital, Changsha City, China) for their statistical analysis and technique works.

本校为第一且通讯机构

PURPOSE: Radioulnar synostosis (RUS) can be syndromic or nonsyndromic. The genetic basis for several RUS syndromes have been reported. However, the genetic cause of nonsyndromic RUS (nsRUS) remains unknown. METHODS: We performed Giemsa (GTG) banding, Sanger sequencing, and exome sequencing on patients (n = 140) and families (n = 11) who suffered from RUS. RESULTS: GTG banding identified 10% RUS sporadic cases affected by sex chromosome aneuploidy. Sanger sequencing on candidate genes revealed noggin (NOG) rarely mutated in nsRUS. Exome sequencing identified 16 loss-of-function (LOF) and 6 miss...