title: Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population.
abstract: BACKGROUND
  Autosomal recessive congenital ichthyosis (ARCI) is the term given to a complex and heterogeneous group of cornification disorders associated with mutations in at least eight distinct genes. Mutation distribution and prevalence rates are instrumental for the design of diagnostic strategies in ARCI but have not yet been systematically explored in the Israeli population. Previous data suggest that the demographic features specific to Middle Eastern populations, such as a high frequency of consanguineous marriages, may have an effect on the molecular epidemiology of genodermatoses.
  
  
  METHODS
  We systematically assessed all families with ARCI presenting at our clinics over a period of 9 years, using a combination of homozygosity mapping, direct sequencing and PCR-restriction fragment length polymorphism assays.
  
  
  RESULTS
  In total, 20 families with ARCI were assessed, and causative mutations were identified in 7 genes: TGM1 (30% of patients), ALOX12B (20%), ABCA12 (5%), CYP4F22 (10%), ALOXE3 (10%), LIPN (5%) and NIPAL4 (5%) Two families (10%) had mutations mapped to an ARCI-associated locus on 12p11.2-q13, while no mutation was found for one additional kindred. In the subgroup of families of Arab Muslim origin, mutations were identified most frequently in ALOX12B and TGM1 (31%), whereas the other subgroups displayed a subtype distribution very similar to that previously reported in western populations.
  
  
  CONCLUSIONS
  The present data point to the need for population-tailored mutation screening strategies in genetically heterogeneous genodermatoses, based on the relative prevalence of the disease subsets.
authors.affiliation: Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel.
authors.forename: S
authors.initials: S
authors.lastname: Israeli
authors.forename: I
authors.initials: I
authors.lastname: Goldberg
authors.forename: D
authors.initials: D
authors.lastname: Fuchs-Telem
authors.forename: R
authors.initials: R
authors.lastname: Bergman
authors.forename: M
authors.initials: M
authors.lastname: Indelman
authors.forename: O
authors.initials: O
authors.lastname: Bitterman-Deutsch
authors.forename: A
authors.initials: A
authors.lastname: Harel
authors.forename: Y
authors.initials: Y
authors.lastname: Mashiach
authors.forename: O
authors.initials: O
authors.lastname: Sarig
authors.forename: E
authors.initials: E
authors.lastname: Sprecher
mesh_terms: D001092:Arachidonate 12-Lipoxygenase / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000235:genetics*; D007557:Israel; D018895:Microsatellite Repeats; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length; D017422:Sequence Analysis, DNA; D011503:Transglutaminases / Q000235:genetics*
chemical_list: C514086:ALOX12B protein, human; D001092:Arachidonate 12-Lipoxygenase; D011503:Transglutaminases; C105804:transglutaminase 1