Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in five Chinese families.
10.1007/s11684-021-0878-x
- Author:
Rongrong WANG
1
;
Liwei SUN
1
;
Xiaerbati HABULIETI
1
;
Jiawei LIU
2
;
Kexin GUO
1
;
Xueting YANG
1
;
Donglai MA
3
;
Xue ZHANG
4
Author Information
1. McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, Beijing, 100005, China.
2. Department of Dermatology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, National Clinical Research Center for Dermatologic and Immunologic Diseases, Beijing, 100072, China.
3. Department of Dermatology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, National Clinical Research Center for Dermatologic and Immunologic Diseases, Beijing, 100072, China. mdonglai@sohu.com.
4. McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, Beijing, 100005, China. xuezhang@pumc.edu.cn.
- Publication Type:Letter
- Keywords:
COL7A1;
Chinese families;
KRT5;
LAMA3;
epidermolysis bullosa
- MeSH:
Humans;
Asian People/genetics*;
China;
Collagen Type VII/genetics*;
Epidermolysis Bullosa/genetics*;
Epidermolysis Bullosa Dystrophica/genetics*;
Keratin-5/genetics*;
Mutation;
Pedigree;
Laminin/genetics*
- From:
Frontiers of Medicine
2022;16(5):808-814
- CountryChina
- Language:English
-
Abstract:
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.
