Management of ichthyosis and related conditions gene-based diagnosis and emerging gene-based therapy

被引：3

作者：

Richard, Gabriele ^{[1
]}

Choate, Keith ^{[2
]}

Milstone, Leonard ^{[2
]}

Bale, Sherri ^{[1
]}

机构：

[1] GeneDx, Gaithersburg, MD 20877 USA

[2] Yale Univ, Dept Dermatol, New Haven, CT 06520 USA

来源：

DERMATOLOGIC THERAPY | 2013年 / 26卷 / 01期

关键词：

gene therapy; genetic test; ichthyosis; molecular diagnosis; prenatal diagnosis; RECESSIVE CONGENITAL ICHTHYOSIS; ABCA12; MUTATIONS; KERATINOCYTES; HETEROGENEITY; ALOXE3;

D O I：

10.1111/j.1529-8019.2012.01553.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Knowledge of the molecular basis of many inherited diseases has grown exponentially during the past decade. Inherited skin diseases, including the ichthyoses and related conditions, benefited from that explosion of information, much of which has relevance for the clinical setting. In this section, the authors review the genes now known to be involved in ichthyosis, the methods for detecting mutations in those genes in the clinical diagnostic laboratory, options for using that information for diagnosis and pregnancy/family planning decisions, and current and future therapies based on the knowledge of the molecular basis of the ichthyosis.

引用

收藏

页码：55 / 68

页数：14

相关论文

共 26 条

[1] ABCA12 Mutations and Autosomal Recessive Congenital Ichthyosis: A Review of Genotype/Phenotype Correlations and of Pathogenetic Concepts [J].

Akiyama, Masashi .

HUMAN MUTATION, 2010, 31 (10) :1090-1096

[2] Chemical Chaperones Protect Epidermolysis Bullosa Simplex Keratinocytes from Heat Stress-Induced Keratin Aggregation: Involvement of Heat Shock Proteins and MAP Kinases [J].

Chamcheu, Jean Christopher ;

Navsaria, Harshad ;

Pihl-Lundin, Inger ;

Liovic, Mirjana ;

Vahlquist, Anders ;

Torma, Hans .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2011, 131 (08) :1684-1691

[3] Corrective gene transfer in the human skin disorder lamellar ichthyosis [J].

Choate, KA ;

Medalie, DA ;

Morgan, JR ;

Khavari, PA .

NATURE MEDICINE, 1996, 2 (11) :1263-1267

[4] Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10 [J].

Choate, Keith A. ;

Lu, Yin ;

Zhou, Jing ;

Choi, Murim ;

Elias, Peter M. ;

Farhi, Anita ;

Nelson-Williams, Carol ;

Crumrine, Debra ;

Williams, Mary L. ;

Nopper, Amy J. ;

Bree, Alanna ;

Milstone, Leonard M. ;

Lifton, Richard P. .

SCIENCE, 2010, 330 (6000) :94-97

[5] Clinical and genetic heterogeneity of erythrokeratoderma variabilis [J].

Common, JEA ;

O'Toole, EA ;

Leigh, IM ;

Thomas, A ;

Griffiths, WAD ;

Venning, V ;

Grabczynska, S ;

Peris, Z ;

Kansky, A ;

Kelsell, DR .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2005, 125 (05) :920-927

[6]

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

[7] Molecular Analysis of 250 Patients with Autosomal Recessive Congenital Ichthyosis: Evidence for Mutation Hotspots in ALOXE3 and Allelic Heterogeneity in ALOX12B [J].

Eckl, Katja-Martina ;

de Juanes, Silvia ;

Kurtenbach, Janine ;

Naetebus, Marc ;

Lugassy, Jenny ;

Oji, Vinzenz ;

Traupe, Heiko ;

Preil, Marie-Luise ;

Martinez, Francisco ;

Smolle, Josef ;

Harel, Avikam ;

Krieg, Peter ;

Sprecher, Eli ;

Hennies, Hans C. .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2009, 129 (06) :1421-1428

[8] Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA [J].

Farasat, S. ;

Wei, M-H ;

Herman, M. ;

Liewehr, D. J. ;

Steinberg, S. M. ;

Bale, S. J. ;

Fleckman, P. ;

Toro, J. R. .

JOURNAL OF MEDICAL GENETICS, 2009, 46 (02) :103-111

[9] Autosomal Recessive Congenital Ichthyosis [J].

Fischer, Judith .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2009, 129 (06) :1319-1321

[10] A model of corrective gene transfer in X-linked ichthyosis [J].

Freiberg, RA ;

Choate, KA ;

Deng, H ;

Alperin, ES ;

Shapiro, LJ ;

Khavari, PA .

HUMAN MOLECULAR GENETICS, 1997, 6 (06) :927-933