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

被引：20

作者：

Çelebi, JT

Tanzi, EL

Yao, YJ

Michael, EJ

Peacocke, M

机构：

[1] Columbia Univ, Dept Dermatol, Coll Phys & Surg, New York, NY 10032 USA

[2] St Lukes Roosevelt Hosp Ctr, New York, NY USA

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 1999年 / 113卷 / 05期

关键词：

K17; pachyonychia congenita;

D O I：

10.1046/j.1523-1747.1999.00762.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

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.

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收藏

页码：848 / 850

页数：3

相关论文

共 15 条

[1] MUTATION OF A TYPE-II KERATIN GENE (K6A) IN PACHYONYCHIA-CONGENITA [J].

BOWDEN, PE ;

HALEY, JL ;

KANSKY, A ;

ROTHNAGEL, JA ;

JONES, DO ;

TURNER, RJ .

NATURE GENETICS, 1995, 10 (03) :363-365

[2]

Corden L D, 1996, Exp Dermatol, V5, P297, DOI 10.1111/j.1600-0625.1996.tb00133.x

[3]

Covello SP, 1998, BRIT J DERMATOL, V139, P475

[4] INTERMEDIATE FILAMENTS - STRUCTURE, DYNAMICS, FUNCTION, AND DISEASE [J].

FUCHS, E ;

WEBER, K .

ANNUAL REVIEW OF BIOCHEMISTRY, 1994, 63 :345-382

[5] Pachyonychia congenita type 2: Keratin 17 mutation in a Japanese case [J].

Fujimoto, W ;

Nakanishi, G ;

Hirakawa, S ;

Nakanishi, T ;

Shimo, T ;

Takigawa, M ;

Arata, J .

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 1998, 38 (06) :1007-1009

[6]

GORLIN R, 1976, SYNDROMES HAND NECK

[7] PACHYONYCHIA CONGENITA - A REPORT OF 6 CASES IN ONE FAMILY [J].

JACKSON, ADM .

ANNALS OF EUGENICS, 1951, 16 (02) :142-&

[8] DO THE ENDS JUSTIFY THE MEAN - PROLINE MUTATIONS AT THE ENDS OF THE KERATIN COILED-COIL ROD SEGMENT ARE MORE DISRUPTIVE THAN INTERNAL MUTATIONS [J].

LETAI, A ;

COULOMBE, PA ;

FUCHS, E .

JOURNAL OF CELL BIOLOGY, 1992, 116 (05) :1181-1195

[9] KERATIN-16 AND KERATIN-17 MUTATIONS CAUSE PACHYONYCHIA-CONGENITA [J].

MCLEAN, WHI ;

RUGG, EL ;

LUNNY, DP ;

MORLEY, SM ;

LANE, EB ;

SWENSSON, O ;

DOPPINGHEPENSTAL, PJC ;

GRIFFITHS, WAD ;

EADY, RAJ ;

HIGGINS, C ;

NAVSARIA, HA ;

LEIGH, IM ;

STRACHAN, T ;

KUNKELER, L ;

MUNRO, CS .

NATURE GENETICS, 1995, 9 (03) :273-278

[10] ERUPTIVE VELLUS HAIR CYST AND STEATOCYSTOMA MULTIPLEX IN A PATIENT WITH PACHYONYCHIA-CONGENITA [J].

MOON, SE ;

LEE, YS ;

YOUN, JI .

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 1994, 30 (02) :275-276