Identification of a novel missense mutation in NIPAL4 gene: First 3D model construction predicted its pathogenicity.

ABSTRACT:

Background

The NIPAL4 gene is described to be implicated of Congenital Ichthyosiform Erythroderma (CIE). It encodes a magnesium transporter membrane-associated protein, hypothetically involved in epidermal lipid processing and in lamellar body formation. The aim of this work is to investigate the causative mutation in a consanguineous Tunisian family with a clinical feature of CIE with a yellowish severe palmoplantar keratoderma.

Methods

Four patients were dignosed with CIE. The blood samples were collected from patients and all members of their nuclear family for mutation analysis. The novel mutation of NIPAL4 gene was analysed with several software tools to predict its pathogenicity. Then, the secondary structure and the 3D model of ichthyn was generated in silico.

Resu

SUBMITTER: Laadhar S 

PROVIDER: S-EPMC7057103 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature