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Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI‐related genes from the United Arab Emirates
Author(s) -
Bastaki Fatma,
Mohamed Madiha,
Nair Pratibha,
Saif Fatima,
Mustafa Ethar M.,
Bizzari Sami,
AlAli Mahmoud T.,
Hamzeh Abdul Rezzak
Publication year - 2017
Publication title -
international journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 93
eISSN - 1365-4632
pISSN - 0011-9059
DOI - 10.1111/ijd.13568
Subject(s) - indel , sanger sequencing , genetics , missense mutation , gene , exome sequencing , biology , mutation , medicine , genotype , single nucleotide polymorphism
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 ( ARCI s) 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.