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 CASE REPORT
Year : 2015  |  Volume : 81  |  Issue : 4  |  Page : 385--387

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


1 Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China
2 Molecular Genetics Laboratory, Prenatal Diagnosis Center of Sichuan Province, West China Second University Hospital, Sichuan University, Chengdu, China

Correspondence Address:
Prof. Chaomin Wan
No. 17 Section Three, Ren Min Nan Lu Avenue, Chengdu, 610041, Sichuan
China
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0378-6323.158651

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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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Online since 15th March '04
Published by Wolters Kluwer - Medknow