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Frontiers of Medicine

ISSN 2095-0217

ISSN 2095-0225(Online)

CN 11-5983/R

邮发代号 80-967

2019 Impact Factor: 3.421

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Frontiers of Medicine  2022, Vol. 16 Issue (5): 808-814   https://doi.org/10.1007/s11684-021-0878-x
  本期目录
Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in five Chinese families
Rongrong Wang1, Liwei Sun1, Xiaerbati Habulieti1,2, Jiawei Liu3, Kexin Guo1, Xueting Yang1, Donglai Ma3(), Xue Zhang1()
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. The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830001, 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
 全文: PDF(1269 KB)   HTML
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.
Key words： epidermolysis bullosa    LAMA3    COL7A1    KRT5    Chinese families
收稿日期: 2021-02-01      出版日期: 2022-11-18
Corresponding Author(s): Donglai Ma,Xue Zhang   
 引用本文:   
. [J]. Frontiers of Medicine, 2022, 16(5): 808-814.
Rongrong Wang, Liwei Sun, Xiaerbati Habulieti, Jiawei Liu, Kexin Guo, Xueting Yang, Donglai Ma, Xue Zhang. Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in five Chinese families. Front. Med., 2022, 16(5): 808-814.
 链接本文:  
https://academic.hep.com.cn/fmd/CN/10.1007/s11684-021-0878-x
https://academic.hep.com.cn/fmd/CN/Y2022/V16/I5/808
Fig.1  
Fig.2  
Fig.3  
Family Phenotype Gene Inheritance
1 Scars on elbow and orofacial regions, dental enamel defects, nail defects, and hypertrophic scars in the armpit LAMA3 AR
2 Nail dystrophy and loss with granulation tissue of nail beds and scarring and blistering on hands, neck, back hands, and elbow regions COL7A1 AR
3 Blistering and excoriated lesions on her neck, abdomen, extremities and healed with hypertrophic scars; severe hemorrhagic blisters in neck; dysphagia; nail dystrophy; and partial nail loss COL7A1 AR
4 Scarring, erythema, ulceration, crust on his hands, feet, and elbows; blistering on the joint of hands and feet; esophageal strictures COL7A1 AR
AR
5 Blistering from birth especially on friction sites, additional mottled or reticulate macular pigmentation typically of the previous blistering skin KRT5 AD
Family Variant type Exon cDNA change Amino acid change Reference
1 Homozygous 1 c.47G>A p.W16* Present study
2 Heterozygous
Heterozygous		 86
19		 c.6811_6814del
c.2531T>A		 p.R2271fs
p.V844E		 Present study
Present study
3 Heterozygous
Heterozygous		 74
92		 c.6187C>T
c.7097G>A		 p.R2063W
p.G2366D		 [18,19]
[12]
4 Heterozygous
Heterozygous		 27
116		 c.3625_3635del
c. 8569G>T		 p.S1209fs
p.E2857*		 [20]
[21,22]
5 Homozygous 1 c.74C>T p.P25L [11–17]
Tab.1  
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