A novel H1 mutation in keratin 6a in an infant with pachyonychia congenita.
Indian J Dermatol Venereol Leprol
; 2015 Jul-Aug; 81(4): 385-387
Article
de En
| IMSEAR
| ID: sea-160059
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
Mots clés
Texte intégral:
1
Indice:
IMSEAR
Sujet Principal:
Femelle
/
Humains
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Mutation faux-sens
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Pachyonychie congénitale
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Kératine-6
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Nourrisson
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Mutation
langue:
En
Texte intégral:
Indian J Dermatol Venereol Leprol
Année:
2015
Type:
Article