title: Rapid detection of homozygous mutations in congenital recessive ichthyosis.
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.
authors.affiliation: Department of Dermatology, Laboratory of Molecular Dermatology, Rambam Health Care Campus, Rambam Medical Center, Haifa, Israel.
authors.forename: Jennie
authors.initials: J
authors.lastname: Lugassy
authors.forename: Hans Christian
authors.initials: HC
authors.lastname: Hennies
authors.forename: Margarita
authors.initials: M
authors.lastname: Indelman
authors.forename: Ziad
authors.initials: Z
authors.lastname: Khamaysi
authors.forename: Reuven
authors.initials: R
authors.lastname: Bergman
authors.forename: Eli
authors.initials: E
authors.lastname: Sprecher
mesh_terms: D003241:Consanguinity; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods*; D003873:Dermatitis, Exfoliative / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006720:Homozygote; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000208:ethnology / Q000235:genetics* / Q000503:physiopathology; D007223:Infant; D007231:Infant, Newborn; D007492:Iran / Q000208:ethnology; D007557:Israel; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D018805:Sepsis / Q000235:genetics; D011503:Transglutaminases / Q000235:genetics*
chemical_list: D003577:Cytochrome P-450 Enzyme System; D011503:Transglutaminases; C105804:transglutaminase 1