Rapid detection of homozygous mutations in congenital recessive ichthyosis

Lugassy, J., Hennies, Hans C., Indelman, M., Khamaysi, Z., Bergman, R. and Sprecher, E. (2008) Rapid detection of homozygous mutations in congenital recessive ichthyosis. Archives of Dermatological Research, 300 (2). pp. 81-85. ISSN 0340-3696

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Abstract

Congenital recessive ichthyoses (CRI) form a remarkably heterogeneous group of diseases, resulting from mutations in at least eight distinct genes, six of which have been identified so far. In the present study we ascertained two CRI families of Iranian and Druze origins. Exploiting the high degree of consanguinity characterizing these populations, we typed all family members for microsatellite markers spanning the major CRI chromosomal loci and used homozygosity mapping to identify candidate genes for subsequent mutational analysis. This strategy led to the rapid identification of two novel homozygous CRI-causing mutations in TGM1 (c.2058delC) and FLJ39501 (p.W521X). The present data demonstrate that the molecular analyses of CRI in consanguineous families can be readily completed in less than 96 h at relatively low costs.

Item Type:	Article
Additional Information:	Unmapped bibliographic data: ST - Rapid detection of homozygous mutations in congenital recessive ichthyosis [Field not mapped to EPrints] LB - 5 [Field not mapped to EPrints] RP - Not in File [Field not mapped to EPrints]
Uncontrolled Keywords:	Consanguinity
Subjects:	Q Science > QH Natural history > QH301 Biology
Schools:	School of Applied Sciences
Related URLs:	Author
Depositing User:	Hans Hennies
Date Deposited:	15 Jul 2016 09:29
Last Modified:	29 Jul 2016 14:45
URI:	http://eprints.hud.ac.uk/id/eprint/28800

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