Genetic analysis of pediatric patients in an autosomal recessive leukodystrophy cohort
Ehsan Ghayoor karimiyani,
1,* Mehran beiraghi toosi,
2 Farah ashrafzadeh,
3 Mohammad doosti,
4 Paria najarzadeh,
5 Javad akhondian,
6
1. Next Generation Genetic Polyclinic, Mashhad, Iran
2. Pediatric Neurology Department, Ghaem hospital, Mashhad University of Medical Sciences, Mashhad, Iran
3. Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
4. Next Generation Genetic Polyclinic, Mashhad, Iran
5. Next Generation Genetic Polyclinic, Mashhad, Iran
6. Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
Abstract
Introduction
Leukodystrophies are disorders that result in white matter abnormalities in the central nervous system (cns). in this cohort study we aim determined to perform exome sequencing (es) on the patients with autosomal recessive (ar) leukodystrophies, in 62 patients. the broad research aim is to further understanding of brain function in the identification of genes with inherited novel variants in patients with ar leukodystrophy.
Methods
The team contributed to the discovery or identifies the extremely rare disorders of more than 10 different disease genes using exome sequencing technique followed by comprehensive bioinformatic analysis.
Results
Many of these genes are the subject of novel and unexpected genetic pathways crucial for normal brain function such csf1r, mfsd2a, etc.
Conclusion
The current focus of our research is in rare mendelian disorders, especially autosomal recessive to further understanding of brain function with next generation technologies, using several cellular tools including animal models.
Keywords
Pediatric; leukodystrophy; exome sequencing
