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Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populations

Mizrachi-Koren, M., Shemer, S., Morganti, M., Indelman, M., Khamaysi, Z., Petronius, D., Bitterman-Deutsch, O., Hennies, Hans C., Bergman, R. and Sprecher, E. (2006) Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populations. Journal of American Academy of Dermatology, 55 (3). pp. 393-401. ISSN 0190-9622

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Abstract

Background
The routine diagnosis of genodermatoses is significantly complicated by the fact that in this group of disorders, clinical manifestations may result from mutations in unrelated genes (genetic heterogeneity) and mutations in the same gene often lead to dissimilar clinical signs (phenotypic heterogeneity).

Methods
In this study, we applied the principles of homozygosity mapping as a screening method before formal mutational analysis in an attempt to facilitate the molecular diagnosis of genodermatoses in consanguineous families. The method was evaluated in a retrospective fashion in 4 families previously assessed with junctional epidermolysis bullosa and in a prospective manner in 11 families with congenital recessive ichthyosis.

Results
The method was found to be efficient in directing the molecular analysis to one of the 4 genes commonly involved in the pathogenesis of junctional epidermolysis bullosa or in identifying cases of congenital recessive ichthyosis caused by mutations in TGM1. We found that this diagnostic strategy results in a 5-fold decrease in the cost of mutation analysis.

Limitations
The proposed diagnostic strategy is applicable to consanguineous families only and, therefore, cannot be used in outbred populations.

Conclusion
Our results indicate that homozygosity mapping may serve as a useful adjunct in the molecular diagnosis of junctional epidermolysis bullosa or congenital recessive ichthyosis in inbred populations. This study emphasizes the usefulness in human genetics of diagnostic strategies tailored to the demographic features of target populations.

Item Type: Article
Additional Information: Unmapped bibliographic data: ST - Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populations [Field not mapped to EPrints] LB - 15 [Field not mapped to EPrints] RP - Not in File [Field not mapped to EPrints]
Uncontrolled Keywords: analysis
Subjects: Q Science > QH Natural history > QH301 Biology
Q Science > QH Natural history > QH426 Genetics
Schools: School of Applied Sciences
Related URLs:
Depositing User: Hans Hennies
Date Deposited: 14 Jul 2016 09:06
Last Modified: 29 Jul 2016 14:28
URI: http://eprints.hud.ac.uk/id/eprint/28818

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