ECEL1 novel mutation in arthrogryposis type 5D: A molecular dynamic simulation study.

ABSTRACT:

Background

ECEL1 has been presented as a causal gene of an autosomal recessive form distal arthrogryposis (DA) which affects the distal joints. The present study focused on bioinformatic analysis of a novel mutation in ECEL1, c.535A>G (p. Lys179Glu), which was reported in a family with 2 affected boys and fetus through prenatal diagnosis.

Methods

Whole-exome sequencing data analyzed followed by molecular dynamic (MD) simulation of native ECEL1 protein and mutant structures using GROMACS software. One variant c.535A>G, p. Lys179Glu (homozygous) on gene ECEL1 has been detected in proband which was validated in all family members through Sanger sequencing.

Results

We demonstrated remarkable constructional differences by MD simulation between wild-type and novel mutant of

SUBMITTER: Ahangari N 

PROVIDER: S-EPMC10265054 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature