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

Yang，Fang1,2; Yang，Rong Juan3; Li，Qian4; Zhang，Jing5; Meng，Yan Xin5; Liu，Xiao Jun6; Yao，Yong Feng1,2

2022-03-01

10.1002/mgg3.1885

Molecular Genetics and Genomic Medicine   影响因子和分区

2324-9269

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.

COL1A1 COL3A1 COL5A1 Ehlers–Danlos syndrome whole-exome sequencing

SCI

英语

第一 ; 通讯

WOS:000761762200001

2-s2.0-85124488388

Scopus

1.Department of Dermatology,Shenzhen People's Hospital (The Second Clinical Medical College,Jinan University; The First Affiliated Hospital,Southern University of Science and Technology),Shenzhen,China
2.Candidate Branch of National Clinical Research Center for Skin Diseases,Shenzhen,China
3.Department of Obstetrics,Shijiazhuang Obstetrics and Gynecology Hospital,Shijiazhuang,China
4.National Research Institute for Family Planning,Beijing,China
5.Prenatal Diagnosis Center,Shijiazhuang Obstetrics and Gynecology Hospital,Shijiazhuang,China
6.Department of Intensive Care Unit,Shenzhen People's Hospital (The Second Clinical Medical College,Jinan University; The First Affiliated Hospital,Southern University of Science and Technology),Shenzhen,China

Yang，Fang,Yang，Rong Juan,Li，Qian,等. Whole-exome sequencing facilitates the differential diagnosis of Ehlers–Danlos syndrome (EDS)[J]. Molecular Genetics and Genomic Medicine,2022,10(3).

Yang，Fang.,Yang，Rong Juan.,Li，Qian.,Zhang，Jing.,Meng，Yan Xin.,...&Yao，Yong Feng.(2022).Whole-exome sequencing facilitates the differential diagnosis of Ehlers–Danlos syndrome (EDS).Molecular Genetics and Genomic Medicine,10(3).

Yang，Fang,et al."Whole-exome sequencing facilitates the differential diagnosis of Ehlers–Danlos syndrome (EDS)".Molecular Genetics and Genomic Medicine 10.3(2022).