title: Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates.
abstract: BACKGROUND
  Clinical and molecular heterogeneity is a prominent characteristic of congenital ichthyoses, with the involvement of numerous causative loci. Mutations in these loci feature in autosomal recessive congenital ichthyoses (ARCIs) quite variably, with certain genes/mutations being more frequently uncovered in particular populations.
  
  
  METHODS
  In this study, we used whole exome sequencing as well as direct Sanger sequencing to uncover four novel mutations in ARCI-related genes, which were found in families from the United Arab Emirates. In silico tools such as CADD and SIFT Indel were used to predict the functional consequences of these mutations.
  
  
  RESULTS
  The here-presented mutations occurred in three genes (ALOX12B, TGM1, ABCA12), and these are a mixture of missense and indel variants with damaging functional consequences on their encoded proteins.
  
  
  CONCLUSIONS
  This study presents an overview of the mutations that were found in ARCI-related genes in Arabs and discusses molecular and clinical details pertaining to the above-mentioned Emirati cases and their novel mutations with special emphasis on the resulting protein changes.
authors.affiliation: Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, UAE.
authors.forename: Fatma
authors.initials: F
authors.lastname: Bastaki
authors.affiliation: Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, UAE.
authors.forename: Madiha
authors.initials: M
authors.lastname: Mohamed
authors.affiliation: Centre for Arab Genomic Studies, Dubai, UAE.
authors.forename: Pratibha
authors.initials: P
authors.lastname: Nair
authors.affiliation: Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, UAE.
authors.forename: Fatima
authors.initials: F
authors.lastname: Saif
authors.affiliation: Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, UAE.
authors.forename: Ethar M
authors.initials: EM
authors.lastname: Mustafa
authors.affiliation: Centre for Arab Genomic Studies, Dubai, UAE.
authors.forename: Sami
authors.initials: S
authors.lastname: Bizzari
authors.affiliation: Centre for Arab Genomic Studies, Dubai, UAE.
authors.forename: Mahmoud T
authors.initials: MT
authors.lastname: Al-Ali
authors.affiliation: Centre for Arab Genomic Studies, Dubai, UAE.
authors.forename: Abdul Rezzak
authors.initials: AR
authors.lastname: Hamzeh
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D018912:Arabs / Q000235:genetics*; D001092:Arachidonate 12-Lipoxygenase / Q000235:genetics*; D019295:Computational Biology; D004252:DNA Mutational Analysis; D059472:Exome; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D054643:INDEL Mutation; D017490:Ichthyosis, Lamellar / Q000208:ethnology / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D011503:Transglutaminases / Q000235:genetics*; D014479:United Arab Emirates
chemical_list: C473801:ABCA12 protein, human; D018528:ATP-Binding Cassette Transporters; C514086:ALOX12B protein, human; D001092:Arachidonate 12-Lipoxygenase; D011503:Transglutaminases; C105804:transglutaminase 1