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

Autor:	Ghafouri-Fard S; Department of Medical Genetics, Shahid Beheshti University of Medical sciences, Tehran, Iran., Yassaee VR; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Rezayi A; Pediatric Neurology Department, Loghman Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Hashemi-Gorji F; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Alipour N; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Miryounesi M; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Jazyk:	angličtina
Zdroj:	International journal of molecular and cellular medicine [Int J Mol Cell Med] 2016 Fall; Vol. 5 (4), pp. 255-259. Date of Electronic Publication: 2016 Oct 23.
Abstrakt:	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.
Databáze:	MEDLINE
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