Journal
MOLECULAR GENETICS & GENOMIC MEDICINE
Volume 10, Issue 3, Pages -Publisher
WILEY
DOI: 10.1002/mgg3.1885
Keywords
COL1A1; COL3A1; COL5A1; Ehlers-Danlos syndrome; whole-exome sequencing
Categories
Funding
- National Key Research and Development Program of China [2016YFC1000307]
Ask authors/readers for more resources
This study identified three new diagnostic variants in patients with different subtypes of EDS, expanding the mutation spectrum of the condition. The findings also highlighted the effectiveness of WES in the differential diagnosis of disorders with overlapping phenotypes and various pathogenesis.
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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available