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Identification of a Novel COL17A1 Compound Heterozygous Mutation in a Chinese Girl with Non-Herlitz Junctional Epidermolysis Bullosa

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Current Medical Science 2020年第4期40卷 795-800页

作者： Yan-yi YAO Yong ZHANG Xiao-hui XIE Lan CHEN Feng ZHU Min ZHOU Medical genetics Center Maternal and Child Health Hospital of Hubei ProvinceWuhan 430070China Department of Cardiology Wuhan Children's HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430015China Department of Dermatology and Venereology Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China Department of Cardiology Union HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430022China Clinic Center of Human gene Research Union HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430022China Department of Respiratory and Critical Care Medicine Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China

Summary:Non-Herlitz junctional epidermolysis bullosa(JEB-nH),an autosomal recessive bullous genodermatosis,is characterized by generalized skin blistering from birth onward,dental anomalies,universal alopecia and nail *** underlying defect is mutation of the coli7ai gene encoding the type XVⅡcollagen,resulting in losing structure for attachment of basal epithelial cells to the *** present study,we described one case of congenitally affected female child aged 10 years,with skin *** examination revealed sparse,mild blisters on the face and hand,with profound enamel pitting of the *** biopsy from proband's bullous skin displayed subepidermal bulla formation without *** immunofluorescence of anti-type XVⅡcollagen antibody staining showed loss of type XVⅡcollagen staining at the basement membrane zone.A combination of whole exome sequencing(WES)and Sanger sequencing revealed the novel heterozygous mutations(C.4324C>T;p.Q1442^*and C.I 834G>C;p.G612R)in coli7ai gene,which could be associated with the observed *** allele had a novel nonsense mutation(c.4324C>T;p.Q1442^*),resulting in nonsense-mediated mRNA decay and truncated collagen XVⅡ;the other allelc had a novel misscnse mutation of c.1834G>C;p.G612R in exon 22,causing a glycine-to-arginine substitution in the Gly-X-Y triple helical repeating motifs and decreasing the thermal stability of collagen XVⅡ.Our findings indicate that the genetic test based on WES can be useful in diagnosing JEB-nH *** novel pathogenic mutations identified would further expand our understanding of the mutation spectrum of coli7ai gene in association with the inherited blistering diseases.

关键词： non-Herlitz junctional epidermolysis bullosa coli7ai gene mutation whole exome sequencing

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