A novel H1 mutation in keratin 6a in an infant with pachyonychia congenita

作者：Luo Shuanghong; Luo Qiuhong; Zhang Habda; Wan Chaomin^*

来源：Indian Journal of Dermatology, Venereology and Leprology, 2015, 81(4): 385-387.

DOI：10.4103/0378-6323.158651

• Keratin 6A gene
• keratin-6
• mutation
• pachyonychia congenita

Pachyonychia congenita (PC) is a rare genetic disorder which is inherited in an autosomal dominant pattern. We report a sporadic novel H1 mutation in the KRT6A gene (c. 428G>A/p. Ser143Asn) in a Chinese infant patient. The mutation is concurrent with a single-nucleotide polymorphism and resulted in a serine for asparagine substitution in H1 subdomain of KRT6A chain next to the rod domain. The infant showed the classic symptoms of pachyonychia congenita. Conclusion: The heterozygous missense mutation c. 428G> A/p.Ser143Asn in KRT6A exon 1 may cause severe disease.

• 出版日期2015-8
• 单位四川大学