A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads

Yong Lu; Chenhong Guo; Qiji Liu; Xiyu Zhang; Lin Cheng; Jiangxia Li; Bingxi Chen; Guimin Gao; Haibin Zhou; Yishou Guo; Yefu Li; Yaoqin Gong

doi:10.1002/ajmg.a.20090

A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads

Yong Lu
, Chenhong Guo
, Qiji Liu
, Xiyu Zhang
, Lin Cheng
, Jiangxia Li
, Bingxi Chen
, Guimin Gao
, Haibin Zhou
, Yishou Guo
, Yefu Li
, Yaoqin Gong

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

32 Scopus citations

Abstract

Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominantly inherited disease. We studied a family from Shandong, China, having patients suffering from EPPK with a unique symptom - knuckle pads. We noticed that both the hyperkeratosis and knuckle pads in the Chinese family were friction-related. Candidate gene analysis was carried out using linkage analysis and direct sequencing. A novel L160F mutation in keratin 9 was found, and its effects on the secondary structure of keratin 9 were studied. We predict that the L160F mutation is also responsible for the knuckle pads in the family. Our study provides a new clue for the study of the function of keratin 9.

Original language	English
Pages (from-to)	345-349
Number of pages	5
Journal	American Journal of Medical Genetics
Volume	120 A
Issue number	3
DOIs	https://doi.org/10.1002/ajmg.a.20090
State	Published - 30 Jul 2003
Externally published	Yes

Keywords

Epidermolytic palmoplantar keratoderma
KRT9
Keratin 9
Knuckle pads
Mutation

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10.1002/ajmg.a.20090

Cite this

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title = "A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads",

abstract = "Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominantly inherited disease. We studied a family from Shandong, China, having patients suffering from EPPK with a unique symptom - knuckle pads. We noticed that both the hyperkeratosis and knuckle pads in the Chinese family were friction-related. Candidate gene analysis was carried out using linkage analysis and direct sequencing. A novel L160F mutation in keratin 9 was found, and its effects on the secondary structure of keratin 9 were studied. We predict that the L160F mutation is also responsible for the knuckle pads in the family. Our study provides a new clue for the study of the function of keratin 9.",

keywords = "Epidermolytic palmoplantar keratoderma, KRT9, Keratin 9, Knuckle pads, Mutation",

author = "Yong Lu and Chenhong Guo and Qiji Liu and Xiyu Zhang and Lin Cheng and Jiangxia Li and Bingxi Chen and Guimin Gao and Haibin Zhou and Yishou Guo and Yefu Li and Yaoqin Gong",

year = "2003",

month = jul,

day = "30",

doi = "10.1002/ajmg.a.20090",

language = "英语",

volume = "120 A",

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journal = "American Journal of Medical Genetics",

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publisher = "John Wiley and Sons Inc",

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TY - JOUR

T1 - A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads

AU - Lu, Yong

AU - Guo, Chenhong

AU - Liu, Qiji

AU - Zhang, Xiyu

AU - Cheng, Lin

AU - Li, Jiangxia

AU - Chen, Bingxi

AU - Gao, Guimin

AU - Zhou, Haibin

AU - Guo, Yishou

AU - Li, Yefu

AU - Gong, Yaoqin

PY - 2003/7/30

Y1 - 2003/7/30

N2 - Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominantly inherited disease. We studied a family from Shandong, China, having patients suffering from EPPK with a unique symptom - knuckle pads. We noticed that both the hyperkeratosis and knuckle pads in the Chinese family were friction-related. Candidate gene analysis was carried out using linkage analysis and direct sequencing. A novel L160F mutation in keratin 9 was found, and its effects on the secondary structure of keratin 9 were studied. We predict that the L160F mutation is also responsible for the knuckle pads in the family. Our study provides a new clue for the study of the function of keratin 9.

AB - Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominantly inherited disease. We studied a family from Shandong, China, having patients suffering from EPPK with a unique symptom - knuckle pads. We noticed that both the hyperkeratosis and knuckle pads in the Chinese family were friction-related. Candidate gene analysis was carried out using linkage analysis and direct sequencing. A novel L160F mutation in keratin 9 was found, and its effects on the secondary structure of keratin 9 were studied. We predict that the L160F mutation is also responsible for the knuckle pads in the family. Our study provides a new clue for the study of the function of keratin 9.

KW - Epidermolytic palmoplantar keratoderma

KW - KRT9

KW - Keratin 9

KW - Knuckle pads

KW - Mutation

UR - https://www.scopus.com/pages/publications/0041413308

U2 - 10.1002/ajmg.a.20090

DO - 10.1002/ajmg.a.20090

M3 - 文章

C2 - 12838553

AN - SCOPUS:0041413308

SN - 1552-4825

VL - 120 A

SP - 345

EP - 349

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

IS - 3

ER -

A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads

Abstract

Keywords

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