PLA2G6 gene mutation and infantile neuroaxonal degeneration; report of three cases from Iran.

ABSTRACT:

Objectives

Infantile neuroaxonal degeneration (INAD) is a rare subgroup of neurodegeneration with brain iron accumulation (NBIA) disorders. This progressive disorder may develop during the early years of life. Affected individuals mostly manifest developmental delay and/or psychomotor regression as well as other neurological deficits. In the present study, we discussed 3 INAD patients diagnosed before the age of 10 by using Whole-Exome Sequencing (WES).

Materials and methods

We evaluated 3 pediatric patients with clinical phenotypes of INAD who underwent WES. Sanger sequencing was performed for co-segregation analysis of the variants in the families. An in-silico study was conducted for identification of the molecular function of the identified genetic variants in the

SUBMITTER: Jafarzadeh Esfehani R 

PROVIDER: S-EPMC8751752 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature