A Novel Nonsense Mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration

Document Type : Case Report

Authors
Soudeh Ghafouri-Fard 1
Vahid Reza Yassaee 2
Alireza Rezayi 3
Feyzollah Hashemi-Gorji 2
Nasrin Alipour 2
Mohammad Miryounesi 2
1 Department of Medical Genetics, Shahid Beheshti University of Medical sciences, Tehran, Iran
2 Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
3 Pediatric Neurology Department, Loghman Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
10.22088/acadpub.BUMS.5.4.255
Abstract
Pantothenate kinase- associated neurodegeneration (PKAN) syndrome is a rare autosomal recessive disorder
characterized by progressive extrapyramidal dysfunction and iron accumulation in the brain and axonal
spheroids in the central nervous system. It has been shown that the disorder is caused by mutations in PANK2
gene which codes for a mitochondrial enzyme participating in coenzyme A biosynthesis. Here we report two
cases of classic PKAN syndrome with early onset of neurodegenerative disorder. Mutational analysis has
revealed that both are homozygous for a novel nonsense mutation in PANK2 gene (c.T936A (p.C312X)). The
high prevalence of consanguineous marriages in Iran raises the likelihood of occurrence of autosomal recessive
disorders such as PKAN and necessitates proper premarital genetic counseling. Further research is needed to
provide the data on the prevalence of PKAN and identification of common PANK2 mutations in Iranian
population.
Keywords
PANK2
pantothenate kinase-associated neurodegeneration
mutation