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.
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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)
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Chemical References |
- KRT6A protein, human
- Keratin-6
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Topics |
- Female
- Humans
- Infant
- Keratin-6
(genetics)
- Mutation, Missense
- Pachyonychia Congenita
(genetics)
- Pedigree
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