Identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2

Julide Tok Çelebi; Elizabeth L. Tanzi; Ya Juan Yao; Elias J. Michael; Monica Peacocke

doi:10.1046/j.1523-1747.1999.00762.x

Identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2

Julide Tok Çelebi
, Elizabeth L. Tanzi
, Ya Juan Yao
, Elias J. Michael
, Monica Peacocke

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

25 Scopus citations

Abstract

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. It has been demonstrated that PC-2 is associated with germline mutations in the keratin 17 (K17) gene and in its expression partner keratin 6b. In this report, we describe a novel germline mutation in K17, M88T, in a family with PC-2.

Original language	English
Pages (from-to)	848-850
Number of pages	3
Journal	Journal of Investigative Dermatology
Volume	113
Issue number	5
DOIs	https://doi.org/10.1046/j.1523-1747.1999.00762.x
State	Published - 1999
Externally published	Yes

Keywords

K17
Pachyonychia congenita

Access to Document

10.1046/j.1523-1747.1999.00762.x

Cite this

@article{2d2646ea6fbd4c85ba0f6a94d11e5cbc,

title = "Identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2",

abstract = "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. It has been demonstrated that PC-2 is associated with germline mutations in the keratin 17 (K17) gene and in its expression partner keratin 6b. In this report, we describe a novel germline mutation in K17, M88T, in a family with PC-2.",

keywords = "K17, Pachyonychia congenita",

author = "{\c C}elebi, \{Julide Tok\} and Tanzi, \{Elizabeth L.\} and Yao, \{Ya Juan\} and Michael, \{Elias J.\} and Monica Peacocke",

note = "Funding Information: The authors gratefully acknowledge the generous participation of the family. Supported in part by grants from the National Cancer Institute (RO-1 CA-66693 and RO-1 CA-70519 to M.P.), the National Institute on Aging (K-04 AG-00694 to M.P.), and the National Institute of Arthritis and Musculoskeletal and Skin Diseases, Skin Disease Research Center (PO-30 AR44535, to David R. Bickers).",

year = "1999",

doi = "10.1046/j.1523-1747.1999.00762.x",

language = "English",

volume = "113",

pages = "848--850",

journal = "Journal of Investigative Dermatology",

issn = "0022-202X",

publisher = "Elsevier B.V.",

number = "5",

}

TY - JOUR

T1 - Identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2

AU - Çelebi, Julide Tok

AU - Tanzi, Elizabeth L.

AU - Yao, Ya Juan

AU - Michael, Elias J.

AU - Peacocke, Monica

N1 - Funding Information: The authors gratefully acknowledge the generous participation of the family. Supported in part by grants from the National Cancer Institute (RO-1 CA-66693 and RO-1 CA-70519 to M.P.), the National Institute on Aging (K-04 AG-00694 to M.P.), and the National Institute of Arthritis and Musculoskeletal and Skin Diseases, Skin Disease Research Center (PO-30 AR44535, to David R. Bickers).

PY - 1999

Y1 - 1999

N2 - 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. It has been demonstrated that PC-2 is associated with germline mutations in the keratin 17 (K17) gene and in its expression partner keratin 6b. In this report, we describe a novel germline mutation in K17, M88T, in a family with PC-2.

AB - 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. It has been demonstrated that PC-2 is associated with germline mutations in the keratin 17 (K17) gene and in its expression partner keratin 6b. In this report, we describe a novel germline mutation in K17, M88T, in a family with PC-2.

KW - K17

KW - Pachyonychia congenita

UR - https://www.scopus.com/pages/publications/0033228745

U2 - 10.1046/j.1523-1747.1999.00762.x

DO - 10.1046/j.1523-1747.1999.00762.x

M3 - Article

C2 - 10571744

AN - SCOPUS:0033228745

SN - 0022-202X

VL - 113

SP - 848

EP - 850

JO - Journal of Investigative Dermatology

JF - Journal of Investigative Dermatology

IS - 5

ER -

Identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2

Abstract

Keywords

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