A KRT6A and a Novel KRT16 Gene Mutations in Chinese Patients with Pachyonychia Congenita
Authors Gong L, Guo S, Wang D, Wang T, Ren X, Yuan Y, Cui H
Received 9 September 2020
Accepted for publication 16 February 2021
Published 17 March 2021 Volume 2021:14 Pages 903—907
Checked for plagiarism Yes
Review by Single anonymous peer review
Peer reviewer comments 3
Editor who approved publication: Dr Scott Fraser
Li Gong,1,2 Shuping Guo,1 Detong Wang,3 Ting Wang,4 Xiaoli Ren,1 Yuting Yuan,1,2 Hongzhou Cui1
1Department of Dermatology, First Hospital of Shanxi Medical University, Taiyuan, People’s Republic of China; 2The First Clinical Medical College of Shanxi Medical University, Taiyuan, People’s Republic of China; 3Tonghua Hospital of Traditional Chinese Medicine, Tonghua, People’s Republic of China; 4Department of Dermatology, Shanxi Hospital of Integrated Traditional and Western Integrated Medicine, Taiyuan, People’s Republic of China
Correspondence: Hongzhou Cui
Department of Dermatology, First Hospital of Shanxi Medical University, No. 85 Jiefang South Road, Taiyuan, Shanxi, 030001, People’s Republic of China
Email [email protected]
Background: Pachyonychia congenita (PC) is a rare, autosomal dominant genodermatosis characterized by palmoplantar keratoderma, nail dystrophy, cystic lesions, follicular hyperkeratosis, mucosal leukokeratoses, hyperhidrosis, hoarseness, and, rarely, natal teeth. Five keratin genes, KRT6A, KRT6B, KRT6C, KRT16 and KRT17, have been found to be associated with PC.
Methods: Using polymerase chain reaction and Sanger sequencing techniques, the purpose of the present study was to investigate the clinical features associated with PC and discover disease-associated variants. The KRT6A, KRT16, KRT17, and KRT6B exonic and flanking region sequences were amplified and directly sequenced to detect mutations.
Results: Across two independent instances of PC, we identified a previously reported c.1393T>C (p.Tyr465His) mutation in exon 7 of KRT6A, and a novel c.1237G>C (p.Glu413Gln) heterozygous missense mutation in exon 6 of the KRT16 gene.
Conclusion: Through phenotype-genotype analysis among PC pedigrees, confirmed diagnoses of PC-K6a and PC-K16 were made in the two patients who presented with symptoms of PC. A new pathogenic mutation site in PC-K16 was potentially discovered.
Keywords: KRT6A gene, KRT16 gene, pachyonychia congenital, phenotype-genotype
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