Identification of a locus for disseminated superficial actinic porokeratosis at chromosome 12q23.2-24.1

Jia Hui Xia; Yi Feng Yang; Hao Deng; Bei Sha Tang; Dong Sheng Tang; Yun Gui He; Kun Xia; Sheng Xiang Chen; Yi Xiong Li; Qian Pan; Zhi Gao Long; He Ping Dai; Xiao Dong Liao; Jian Feng Xiao; Zhi Ran Liu; Chun Ye Lu; Kuan Ping Yu; Han Xiang Deng

doi:10.1046/j.1523-1747.2000.00978.x

Identification of a locus for disseminated superficial actinic porokeratosis at chromosome 12q23.2-24.1

Jia Hui Xia^*, Yi Feng Yang, Hao Deng, Bei Sha Tang, Dong Sheng Tang, Yun Gui He, Kun Xia, Sheng Xiang Chen, Yi Xiong Li, Qian Pan, Zhi Gao Long, He Ping Dai, Xiao Dong Liao, Jian Feng Xiao, Zhi Ran Liu, Chun Ye Lu, Kuan Ping Yu, Han Xiang Deng

^*Corresponding author for this work

Neurology

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

66 Scopus citations

Abstract

Disseminated superficial actinic porokeratosis is an autosomal dominant cutaneous disorder characterized by many uniformly small, minimal, annular, anhidrotic, and keratotic lesions. The genetic basis for this disease is unknown. Using a genomewide search in a large Chinese family, we identified a locus at chromosome 12q23.2-24.1 responsible for disseminated superficial actinic porokeratosis. The fine mapping study indicates that the disseminated superficial actinic porokeratosis gene is located within a 9.6 cM region between markers D12S1727 and D12S1605, with a maximum two-point LOD score of 20.53 (θ=0.00) at D12S78. This is the first locus identified for a genetic disease where the major phenotype is porokeratosis. The study provides a map location for isolation of a gene causing disseminated superficial actinic porokeratosis.

Original language	English (US)
Pages (from-to)	1071-1074
Number of pages	4
Journal	Journal of Investigative Dermatology
Volume	114
Issue number	6
DOIs	https://doi.org/10.1046/j.1523-1747.2000.00978.x
State	Published - 2000

Keywords

Disseminated superficial actinic porokeratosis
Gene mapping
Genomewide scan
Linkage analysis

ASJC Scopus subject areas

Biochemistry
Molecular Biology
Dermatology
Cell Biology

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10.1046/j.1523-1747.2000.00978.x

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Xia, J. H., Yang, Y. F., Deng, H., Tang, B. S., Tang, D. S., He, Y. G., Xia, K., Chen, S. X., Li, Y. X., Pan, Q., Long, Z. G., Dai, H. P., Liao, X. D., Xiao, J. F., Liu, Z. R., Lu, C. Y., Yu, K. P., & Deng, H. X. (2000). Identification of a locus for disseminated superficial actinic porokeratosis at chromosome 12q23.2-24.1. Journal of Investigative Dermatology, 114(6), 1071-1074. https://doi.org/10.1046/j.1523-1747.2000.00978.x

@article{f716d37edff246da8e8d343e412995f2,

title = "Identification of a locus for disseminated superficial actinic porokeratosis at chromosome 12q23.2-24.1",

abstract = "Disseminated superficial actinic porokeratosis is an autosomal dominant cutaneous disorder characterized by many uniformly small, minimal, annular, anhidrotic, and keratotic lesions. The genetic basis for this disease is unknown. Using a genomewide search in a large Chinese family, we identified a locus at chromosome 12q23.2-24.1 responsible for disseminated superficial actinic porokeratosis. The fine mapping study indicates that the disseminated superficial actinic porokeratosis gene is located within a 9.6 cM region between markers D12S1727 and D12S1605, with a maximum two-point LOD score of 20.53 (θ=0.00) at D12S78. This is the first locus identified for a genetic disease where the major phenotype is porokeratosis. The study provides a map location for isolation of a gene causing disseminated superficial actinic porokeratosis.",

keywords = "Disseminated superficial actinic porokeratosis, Gene mapping, Genomewide scan, Linkage analysis",

author = "Xia, {Jia Hui} and Yang, {Yi Feng} and Hao Deng and Tang, {Bei Sha} and Tang, {Dong Sheng} and He, {Yun Gui} and Kun Xia and Chen, {Sheng Xiang} and Li, {Yi Xiong} and Qian Pan and Long, {Zhi Gao} and Dai, {He Ping} and Liao, {Xiao Dong} and Xiao, {Jian Feng} and Liu, {Zhi Ran} and Lu, {Chun Ye} and Yu, {Kuan Ping} and Deng, {Han Xiang}",

note = "Funding Information: We are grateful to the family members who participated in this study. We would like to express our thanks to Xiangya Hospital and the Second Affiliated Hospital, Hunan Medical University, for their support. This study was supported by the {\textquoteleft}863' Program (code number: Z19010201, Z19–02–02–02), {\textquoteleft}973' Program (code number: G1998051002) and NSFC (Project 39230220(2)).",

year = "2000",

doi = "10.1046/j.1523-1747.2000.00978.x",

language = "English (US)",

volume = "114",

pages = "1071--1074",

journal = "Journal of Investigative Dermatology",

issn = "0022-202X",

publisher = "Nature Publishing Group",

number = "6",

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Xia, JH, Yang, YF, Deng, H, Tang, BS, Tang, DS, He, YG, Xia, K, Chen, SX, Li, YX, Pan, Q, Long, ZG, Dai, HP, Liao, XD, Xiao, JF, Liu, ZR, Lu, CY, Yu, KP & Deng, HX 2000, 'Identification of a locus for disseminated superficial actinic porokeratosis at chromosome 12q23.2-24.1', Journal of Investigative Dermatology, vol. 114, no. 6, pp. 1071-1074. https://doi.org/10.1046/j.1523-1747.2000.00978.x

TY - JOUR

T1 - Identification of a locus for disseminated superficial actinic porokeratosis at chromosome 12q23.2-24.1

AU - Xia, Jia Hui

AU - Yang, Yi Feng

AU - Deng, Hao

AU - Tang, Bei Sha

AU - Tang, Dong Sheng

AU - He, Yun Gui

AU - Xia, Kun

AU - Chen, Sheng Xiang

AU - Li, Yi Xiong

AU - Pan, Qian

AU - Long, Zhi Gao

AU - Dai, He Ping

AU - Liao, Xiao Dong

AU - Xiao, Jian Feng

AU - Liu, Zhi Ran

AU - Lu, Chun Ye

AU - Yu, Kuan Ping

AU - Deng, Han Xiang

N1 - Funding Information: We are grateful to the family members who participated in this study. We would like to express our thanks to Xiangya Hospital and the Second Affiliated Hospital, Hunan Medical University, for their support. This study was supported by the ‘863' Program (code number: Z19010201, Z19–02–02–02), ‘973' Program (code number: G1998051002) and NSFC (Project 39230220(2)).

PY - 2000

Y1 - 2000

N2 - Disseminated superficial actinic porokeratosis is an autosomal dominant cutaneous disorder characterized by many uniformly small, minimal, annular, anhidrotic, and keratotic lesions. The genetic basis for this disease is unknown. Using a genomewide search in a large Chinese family, we identified a locus at chromosome 12q23.2-24.1 responsible for disseminated superficial actinic porokeratosis. The fine mapping study indicates that the disseminated superficial actinic porokeratosis gene is located within a 9.6 cM region between markers D12S1727 and D12S1605, with a maximum two-point LOD score of 20.53 (θ=0.00) at D12S78. This is the first locus identified for a genetic disease where the major phenotype is porokeratosis. The study provides a map location for isolation of a gene causing disseminated superficial actinic porokeratosis.

AB - Disseminated superficial actinic porokeratosis is an autosomal dominant cutaneous disorder characterized by many uniformly small, minimal, annular, anhidrotic, and keratotic lesions. The genetic basis for this disease is unknown. Using a genomewide search in a large Chinese family, we identified a locus at chromosome 12q23.2-24.1 responsible for disseminated superficial actinic porokeratosis. The fine mapping study indicates that the disseminated superficial actinic porokeratosis gene is located within a 9.6 cM region between markers D12S1727 and D12S1605, with a maximum two-point LOD score of 20.53 (θ=0.00) at D12S78. This is the first locus identified for a genetic disease where the major phenotype is porokeratosis. The study provides a map location for isolation of a gene causing disseminated superficial actinic porokeratosis.

KW - Disseminated superficial actinic porokeratosis

KW - Gene mapping

KW - Genomewide scan

KW - Linkage analysis

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DO - 10.1046/j.1523-1747.2000.00978.x

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VL - 114

SP - 1071

EP - 1074

JO - Journal of Investigative Dermatology

JF - Journal of Investigative Dermatology

SN - 0022-202X

IS - 6

ER -

Identification of a locus for disseminated superficial actinic porokeratosis at chromosome 12q23.2-24.1

Abstract

Keywords

ASJC Scopus subject areas

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