Genetic and Clinical Studies of Autosomal Recessive Congenital Ichthyoses Belonging to the 12(R)- lipoxygenase Pathway (2006)

Dr. Judith Fischer
CNRG component Centre National de Génotypage, CNG Dermatologic Disease Projects, Evry, France

Dr. Judith Fischer

Six genes are known to be responsible for autosomal recessive congenital ichthyoses (ARCI) to date: TGM1, ALOX12B, ALOXE3, ichthyin, ABCA12 and CYP4F22; most of them are implicated in the same metabolic pathway. DNA from patients and their families has been collected in collaboration with dermatologists from all over the world (France, Nord Africa, Turkey, Italy, Sweden, Denmark, Switzerland, USA etc) supported by grants or institutions from France (Généthon, Gis-Maladie-Rare), Europe (Genskin) and the US (FIRST).

The first objective of our project was to obtain information about the distribution and frequencies of mutations in these genes by analyzing a large number of patients (total of 281 patients and 90 controls in this phase). Since the beginning of the project, mutation analysis in 5 of the 6 genes has already been done. This corresponds to around 30,000 sequence reactions which are carefully analyzed by two members of our laboratory with the help of sophisticated computer programs. Mutations in one of these 6 genes have already been found in over one hundred patients from Europe and Mediterranean countries. A second run will be performed with Scandinavian and US patients. These data will be used to establish a complex catalogue of mutations, and phenotype-genotype correlations (correlation of clinical symptoms with the mutations found). In a third step, the remaining families in which no causative mutations has been found, will be used to find new gene localizations, and finally to identify the missing genes in the 12(R)-lipoxygenase metabolic pathway which seems to be disrupted in most cases of ARCI. The results of this project should lead to a better understanding of the metabolic pathways involved in the pathogenesis of ARCI, and should provide potential targets for treatments.


Dr. Fischer is the Head of Dermatologic Disease Projects at the Centre National de Genotypag in Evry, France. Dr. Fisher received her education at the Faculty of Medicine Homburg and Faculty of Medicine Marburg, St. Louis Hospital in Paris, and the Centre National de Genotypag. Dr. Fischer's research career has focused on genetic studies of psoriasis and rare genetic skin diseases.


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