Novel ALOX12B mutation identified in parents following single nucleotide polymorphism microarray testing of banked DNA from a fatal case of congenital ichthyosis

Salian, Smrithi and Gupta, Ashish and Shukla, Anju and Girisha, KM (2016) Novel ALOX12B mutation identified in parents following single nucleotide polymorphism microarray testing of banked DNA from a fatal case of congenital ichthyosis. Indian Journal of Dermatology, 61 (1). pp. 122-125. ISSN 0019-5154

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Abstract

In genetically and phenotypically heterogeneous conditions like ichthyosis, it is clinically not possible to predict mutation in a specific gene. Sequential testing of all the causative genes is time consuming and expensive. In consanguineous families with autosomal recessive genetically heterogeneous disorders, it is possible to narrow down the candidate gene/genes by recognizing the regions of homozygosity by a single nucleotide polymorphism (SNP) array. Here, we present a fatal case of autosomal recessive severe congenital ichthyosis born to a consanguineous couple. Two candidate genes were recognized by SNP array on banked DNA of the subject. Sequencing of these candidate genes in parents found them to be carriers of the same variation, a novel heterozygous deletion of single nucleotide in exon 8 (c. 1067delT) of ALOX12B gene. The present case illustrates the utility of DNA banking, SNP array and testing of parents to arrive at a definitive molecular diagnosis, essential for genetic counseling, and prenatal testing.

Item Type: Article
Uncontrolled Keywords: Autosomal recessive congenital ichthyosis; genetics; ichthyosis; mutation.
Subjects: Medicine > KMC Manipal > Paediatrics
Depositing User: KMC Library
Date Deposited: 19 Jul 2016 12:03
Last Modified: 19 Jul 2016 12:03
URI: http://eprints.manipal.edu/id/eprint/146646

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