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

ConclusionWe found a homozygous mutation in exon 4 of NIPAL4 c.534A>C (p.E178D), which was identified for the first time in our study. Bioinformatic investigations supported its involvement in the phenotype of patients with CIE. Interestingly, this mutation was located in the hypothetical transport channel cavity and leads to changes in the channel architecture, which would probably affect its transport function.

Source: Molecular Genetics & Genomic Medicine - December 25, 2019 Category: Genetics & Stem Cells Authors: Sahar Laadhar, Riadh Ben Mansour, Slaheddine Marrakchi, Nabil Miled, Mariem Ennouri, Judith Fischer, Mohamed Ali Kaddechi, Hamida Turki, Faiza Fakhfakh Tags: ORIGINAL ARTICLE Source Type: research