Novel keratin 17 mutations in pachyonychia congenita type 2

Frances Smith; Carrie M. Coleman; Nagy M. Bayoumy; Romano Tenconi; John Nelson; Albert David; Irwin McLean

doi:10.1046/j.1523-1747.2001.01335.x

Novel keratin 17 mutations in pachyonychia congenita type 2

Frances Smith, Carrie M. Coleman, Nagy M. Bayoumy, Romano Tenconi, John Nelson, Albert David, Irwin McLean

Research output: Contribution to journal › Article › peer-review

19 Citations (Scopus)

Abstract

Pachyonychia congenita type 2 is an inherited ectodermal dysplasia characterized by hypertrophic nail dystrophy and multiple pilosebaceous cysts. Focal nonepidermolytic palmoplantar keratoderma, natal teeth, and pili torti may also be present. Epithelial tissues affected in pachyonychia congenita type 2 express the keratin pair K6b/K17. Here, we report three novel heterozygous mutations in the K17 gene (KRT17A) in patients presenting with pachyonychia congenita type 2. These mutations, R94-98del (deletion of the peptide sequence RLASY) and missense mutations R94P and L95Q, are all within the 1A domain hotspot for pathogenic keratin mutations.

Original language	English
Pages (from-to)	806-808
Number of pages	3
Journal	Journal of Investigative Dermatology
Volume	116
Issue number	5
DOIs	https://doi.org/10.1046/j.1523-1747.2001.01335.x
Publication status	Published - 2001

Keywords

Genetics
Genodermatosis
Intermediate filaments
Keratinizing disorder
Mutation

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title = "Novel keratin 17 mutations in pachyonychia congenita type 2",

abstract = "Pachyonychia congenita type 2 is an inherited ectodermal dysplasia characterized by hypertrophic nail dystrophy and multiple pilosebaceous cysts. Focal nonepidermolytic palmoplantar keratoderma, natal teeth, and pili torti may also be present. Epithelial tissues affected in pachyonychia congenita type 2 express the keratin pair K6b/K17. Here, we report three novel heterozygous mutations in the K17 gene (KRT17A) in patients presenting with pachyonychia congenita type 2. These mutations, R94-98del (deletion of the peptide sequence RLASY) and missense mutations R94P and L95Q, are all within the 1A domain hotspot for pathogenic keratin mutations.",

keywords = "Genetics, Genodermatosis, Intermediate filaments, Keratinizing disorder, Mutation",

author = "Frances Smith and Coleman, {Carrie M.} and Bayoumy, {Nagy M.} and Romano Tenconi and John Nelson and Albert David and Irwin McLean",

note = "dc.publisher: Nature Publishing Group This is the top dermatology journal Here we report mutations in the keratin 17 gene, in several cases of a rare inherited disorder pachyonychia congenita which affects the nails, skin and oral mucosa. ",

year = "2001",

doi = "10.1046/j.1523-1747.2001.01335.x",

language = "English",

volume = "116",

pages = "806--808",

journal = "Journal of Investigative Dermatology",

issn = "0022-202X",

publisher = "Elsevier",

number = "5",

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TY - JOUR

T1 - Novel keratin 17 mutations in pachyonychia congenita type 2

AU - Smith, Frances

AU - Coleman, Carrie M.

AU - Bayoumy, Nagy M.

AU - Tenconi, Romano

AU - Nelson, John

AU - David, Albert

AU - McLean, Irwin

N1 - dc.publisher: Nature Publishing Group This is the top dermatology journal Here we report mutations in the keratin 17 gene, in several cases of a rare inherited disorder pachyonychia congenita which affects the nails, skin and oral mucosa.

PY - 2001

Y1 - 2001

N2 - Pachyonychia congenita type 2 is an inherited ectodermal dysplasia characterized by hypertrophic nail dystrophy and multiple pilosebaceous cysts. Focal nonepidermolytic palmoplantar keratoderma, natal teeth, and pili torti may also be present. Epithelial tissues affected in pachyonychia congenita type 2 express the keratin pair K6b/K17. Here, we report three novel heterozygous mutations in the K17 gene (KRT17A) in patients presenting with pachyonychia congenita type 2. These mutations, R94-98del (deletion of the peptide sequence RLASY) and missense mutations R94P and L95Q, are all within the 1A domain hotspot for pathogenic keratin mutations.

AB - Pachyonychia congenita type 2 is an inherited ectodermal dysplasia characterized by hypertrophic nail dystrophy and multiple pilosebaceous cysts. Focal nonepidermolytic palmoplantar keratoderma, natal teeth, and pili torti may also be present. Epithelial tissues affected in pachyonychia congenita type 2 express the keratin pair K6b/K17. Here, we report three novel heterozygous mutations in the K17 gene (KRT17A) in patients presenting with pachyonychia congenita type 2. These mutations, R94-98del (deletion of the peptide sequence RLASY) and missense mutations R94P and L95Q, are all within the 1A domain hotspot for pathogenic keratin mutations.

KW - Genetics

KW - Genodermatosis

KW - Intermediate filaments

KW - Keratinizing disorder

KW - Mutation

U2 - 10.1046/j.1523-1747.2001.01335.x

DO - 10.1046/j.1523-1747.2001.01335.x

M3 - Article

SN - 0022-202X

VL - 116

SP - 806

EP - 808

JO - Journal of Investigative Dermatology

JF - Journal of Investigative Dermatology

IS - 5

ER -

Novel keratin 17 mutations in pachyonychia congenita type 2

Abstract

Keywords

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