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Dergiler / Turkish Journal of Pediatrics / 2018 / Cilt: 60 - Sayı: 4

A novel Y160C mutation of Keratin 10 gene in a Chinese male infant with epidermolytic hyperkeratosis

Chenyu ZHAO
Yonggui LI
Gaoxing SHI
Xiaoliu SHI
Guiying ZHANG
Sayfa
426–428
DOI
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These results expand the database of keratin 10 gene mutations.

📌 3 Maddede Bu Makale

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Amaç & Hipotez:Epidermolytic hyperkeratosis (EHK) is a rare genodermatosis whose prevalenceis less than 1 in 100,000.
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Temel Bulgular & Veri:Mutations in either the keratin 1 or keratin 10genes lead to EHK characterized by congenital erythema and epidermal blistersat birth, followed by hyperkeratotic skin lesions with age.
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Sonuç & Katkı:These results expand the database of keratin 10 gene mutations.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Özet

Epidermolytic hyperkeratosis (EHK) is a rare genodermatosis whose prevalenceis less than 1 in 100,000. Mutations in either the keratin 1 or keratin 10genes lead to EHK characterized by congenital erythema and epidermal blistersat birth, followed by hyperkeratotic skin lesions with age. We here reporta 1-and-a-half-year-old male infant with EHK caused by a novel mutation,c.479A>G, g.489A>G, p. Y160C, of the keratin 10 gene. Mutation at thisposition has been reported previously, but the type of amino acid change wasdifferent. These results expand the database of keratin 10 gene mutations.

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Bu Makaleye Atıf Yap

ZHAO, C., LI, Y., SHI, G., SHI, X., ZHANG, G. (2018). A novel Y160C mutation of Keratin 10 gene in a Chinese male infant with epidermolytic hyperkeratosis. Turkish Journal of Pediatrics, Cilt: 60 - Sayı: 4, 426–428. https://ajindex.com/articles/412162

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Kaynakça (10)

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