1.A novel DLL4 missense mutation in a Chinese patient with Adams-Oliver syndrome
Yu XUE ; Wang RONG-RONG ; Han SHI-RUI ; Bai XIAO ; Habulieti XIAERBATI ; Sun YANG ; Sun LI-WEI ; Zhang HAN ; Khan AMJAD ; Zhang XUE
Chinese Medical Journal 2019;132(14):1755-1757
2.Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in five Chinese families.
Rongrong WANG ; Liwei SUN ; Xiaerbati HABULIETI ; Jiawei LIU ; Kexin GUO ; Xueting YANG ; Donglai MA ; Xue ZHANG
Frontiers of Medicine 2022;16(5):808-814
Epidermolysis bullosa (EB) is a group of clinically and genetically heterogeneous diseases characterized by trauma-induced mucocutaneous fragility and blister formation. Here, we investigated five Chinese families with EB, and eight variants including a novel nonsense variant (c.47G>A, p.W16*) in LAMA3, a known recurrent variant (c.74C>T, p.P25L) in KRT5, 2 novel (c.2531T>A, p.V844E; c.6811_6814del, p.R2271fs) and 4 known (c.6187C>T, p.R2063W; c.7097G>A, p.G2366D; c.8569G>T, p.E2857*; c.3625_3635del, p.S1209fs) variants in COL7A1 were detected. Notably, this study identified a nonsense variant in LAMA3 that causes EB within the Chinese population and revealed that this variant resulted in a reduction in LAMA3 mRNA and protein expression levels by nonsense-mediated mRNA decay. Our study expands the mutation spectra of Chinese patients with EB.
Humans
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Asian People/genetics*
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China
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Collagen Type VII/genetics*
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Epidermolysis Bullosa/genetics*
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Epidermolysis Bullosa Dystrophica/genetics*
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Keratin-5/genetics*
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Mutation
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Pedigree
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Laminin/genetics*
Result Analysis
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