Whole‐exome sequencing facilitates the differential diagnosis of Ehlers–Danlos syndrome (EDS)

Molecular Genetics & Genomic Medicine

Rong‐Juan Yang¹  Fang Yang²  Yong‐Feng Yao³  Qian Li⁴  Jing Zhang⁵  Xiao‐Jun Liu⁶  Yan‐Xin Meng⁶ 

[1] The First Affiliated Hospital, Southern University of Science and Technology) Shenzhen China;Department of Dermatology Shenzhen People's Hospital (The Second Clinical Medical College, Jinan University;Department of Intensive Care Unit Shenzhen People's Hospital (The Second Clinical Medical College, Jinan University;Department of Obstetrics Shijiazhuang Obstetrics and Gynecology Hospital Shijiazhuang China;National Research Institute for Family Planning Beijing China;Prenatal Diagnosis Center Shijiazhuang Obstetrics and Gynecology Hospital Shijiazhuang China;

关键词: COL1A1;    COL3A1;    COL5A1;    Ehlers–Danlos syndrome;    whole‐exome sequencing;   

DOI  :  10.1002/mgg3.1885

来源: DOAJ

【 摘 要 】

Abstract Ehlers–Danlos syndromes (EDSs) are a group of rare monogenic conditions with strong heterogeneity and can be caused by 20 genes associating with the essence of the extracellular matrix (ECM). This study enrolled three cases with various subtypes of EDS. Clinical evaluation and genetic testing with whole‐exome sequencing (WES) were performed. The clinical manifestations of all three patients were thoroughly monitored; and three de novo diagnostic variants, namely COL5A1: NM_001278074.1: c.4609‐2A>C, COL3A1: NM_000090.3: c.3554G>T(p.Gly1185Val), and COL1A1: NM_000088.3: c.545G>T(p.Gly182Val) were identified from them, respectively. The findings in this study expanded the mutation spectrum of EDS and strengthened the efficiency of WES in the differential diagnosis on disorders with overlapping phenotypes and various pathogenesis.

【 授权许可】

Unknown