Keratin 17 mutation in pachyonychia congenita type 2 with early onset sebaceous cysts

Yg, Feng; Sx, Xiao; Xr, Ren; Wq, Wang; A, Liu; Pan, Mei

doi:10.1046/j.1365-2133.2003.05152.x

Cited by 29 publications

(21 citation statements)

References 25 publications

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“…We have identified a novel mutation (N109D) located in the second half of the 1A domain (N25D in the 1A domain) of K17 in a Chinese pedigree with delayed-onset PC-2. To date and including this report, 24 independent mutations have been described in patients with either PC-2 or steatocystoma multiplex Fujimoto et al, 1998;Celebi et al, 1999;Smith et al, 2001;Terrinoni et al, 2001;Wang et al, 2001;Hashiguchi et al, 2002;Feng et al, 2003; www.interfil.org). They were located in the helix initiation 1A domain of K17 (Fig 2).…”

Section: Discussionmentioning

confidence: 83%

A Novel Mutation in the Second Half of the Keratin 17 1A Domain in a Large Pedigree with Delayed-Onset Pachyonychia Congenita Type 2

Xiao

Yan

Ren

et al. 2004

Journal of Investigative Dermatology

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Pachyonychia congenita type 2 (PC-2), also known as Jackson-Lawler type PC, is an autosomal dominant disorder characterized by hypertrophic nail dystrophy associated with focal keratoderma and multiple pilosebaceous cysts. We report a large Chinese pedigree of typical delayed-onset PC-2 that includes 19 affected members. Direct sequencing of PCR products revealed a novel heterozygous 325A-->G mutation in the affected members. This mutation predicts the substitution of asparagine by aspartic acid in codon 109 (N109D) located in the second half of the keratin 17 1A domain, where similar mutation in keratin 5 is associated with the mild Weber-Cockayne form of epidermolysis bullosa simplex.

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Section: Discussionmentioning

confidence: 83%

A Novel Mutation in the Second Half of the Keratin 17 1A Domain in a Large Pedigree with Delayed-Onset Pachyonychia Congenita Type 2

Xiao

Yan

Ren

et al. 2004

Journal of Investigative Dermatology

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“…There is also a previous report regarding the M88T mutation in K17 in which a sebaceous cyst developed in the second decade of life 13 . There are two reports regarding early onset of the cysts, developing at the age of 1 and 5 years 6,14 . These patients had the heterozygous missense mutations N92S and V102M, respectively.…”

Section: Discussionmentioning

confidence: 89%

Keratin 17 mutation in pachyonychia congenita type 2 patient with early onset steatocystoma multiplex and Hutchinson‐like tooth deformity

Kim

Lee

et al. 2006

The Journal of Dermatology

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Pachyonychia congenita type 2 (PC-2) is an autosomal dominant disorder characterized by hypertrophic nail dystrophy, focal keratoderma, multiple pilosebaceous cysts, and other features of ectodermal dysplasia. It has been demonstrated that PC-2 is caused by mutations in the keratin 17 and keratin 6b genes. In this report, we describe a missense mutation in the keratin 17 gene, M88T, in a Korean patient whose phenotype included early onset steatocystoma multiplex and Hutchinson-like tooth deformities along with other typical features of PC-2 such as hypertrophic nails, natal teeth and follicular hyperkeratosis.

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“…31,32 Na do tipo 2, além do engrossamento da lâmina ungueal, ocorrem cistos na puberdade, sendo muitas vezes difícil diferenciar os subtipos na infância. 31 Nessa variante foram descritas mutações na CQ 17 33,34 e posteriormente em uma família na CQ 6b.…”

Section: Thereby Demonstrating the Decrease In Their Resistance Thatunclassified

Citoqueratinas

Almeida

2004

An. Bras. Dermatol.

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Resumo: As citoqueratinas (CQ) são constituintes do citoesqueleto das células epiteliais, pertencendo aos filamentos intermediários; sua distribuição é específica para cada subtipo de epitélio, permitindo que sejam utilizadas como importantes marcadores de sua diferenciação. Anticorpos monoclonais permitem sua localização nos tecidos e são utilizados no diagnóstico de tumores. Na última década inúmeras mutações foram descritas em seus genes, levando a alteração em sua estrutura molecular, esclarecendo várias enfermidades cutâneas, como epidermólise bolhosa simples (CQ 5 ou 14), hiperqueratose epidermolítica ( CQ 1 ou 10), hiperqueratose palmoplantar epidermolítica ( CQ 9) e paquioníquia congênita (CQ 6, 16 ou 17). Palavras-chave: citoqueratinas; imuno-histoquímica; genética molecular; mutação. Summary Educação Médica Continuada / Continuing Medical EducationAs citoqueratinas (CQ) são constituintes do citoesqueleto das células epiteliais, por isso também denominadas queratinas epiteliais ou queratinas moles, e devem ser diferenciadas das tricoqueratinas, as chamadas queratinas duras, as quais formam a haste do cabelo e a unha. 1O citoesqueleto, uma rede protéica intracelular, é constituído pelos chamados filamentos intermediários, os quais medem de sete a 10nm; pelos filamentos de actina, de cerca de de 7nm; e pelos microtúbulos, que medem 25nm. 2Os microtúbulos estão relacionados com o transporte intracelular de organelas, os filamentos de actina participam da motilidade celular, e os filamentos intermediários dão a estrutura tridimensional da célula. 2Três subclasses de filamentos intermediários são reconhecidas: vimentina e relacionados (vimentina presente nas células mesenquimais, desmina nos miócitos e proteínas gliais nas células neurogliais); neurofilamentos (presentes nos neurônios); e por fim as citoqueratinas, encontradas nos epitélios e estruturas deles derivadas.

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Keratin 17 mutation in pachyonychia congenita type 2 with early onset sebaceous cysts

Cited by 29 publications

References 25 publications

A Novel Mutation in the Second Half of the Keratin 17 1A Domain in a Large Pedigree with Delayed-Onset Pachyonychia Congenita Type 2

A Novel Mutation in the Second Half of the Keratin 17 1A Domain in a Large Pedigree with Delayed-Onset Pachyonychia Congenita Type 2

Keratin 17 mutation in pachyonychia congenita type 2 patient with early onset steatocystoma multiplex and Hutchinson‐like tooth deformity

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