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

Abstract

UNLABELLED:

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.

• Authors: Shuanghong Luo, Qiuhong Luo, Haixia Zhang, Chaomin Wan
• Journal: Indian journal of dermatology, venereology and leprology (Indian J Dermatol Venereol Leprol) 2015 Jul-Aug Vol. 81 Issue 4 Pg. 385-7 ISSN: 0973-3922 [Electronic] United States
• PMID: 26087092 (Publication Type: Case Reports, Journal Article)

Chemical References

• KRT6A protein, human
• Keratin-6

Topics

• Female
• Humans
• Infant
• Keratin-6 (genetics)
• Mutation, Missense
• Pachyonychia Congenita (genetics)
• Pedigree