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

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نوع مطالعه: Case Report | موضوع مقاله: Genetics & Disease
دریافت: ۱۳۹۵/۴/۹ | پذیرش: ۱۳۹۵/۵/۲۴ | انتشار: ۱۳۹۵/۸/۲
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Ghafouri-Fard S, Yassaee V R, Rezayi A, Hashemi-Gorji F, Alipour N, Miryounesi M. A Novel Nonsense mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration. Int J Mol Cell Med. 2016; 5 (4) :255-259
URL: http://ijmcmed.org/article-1-551-fa.html

A Novel Nonsense mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration. مجله بین المللی سلولی و مولکولی. 1395; 5 (4) :255-259

URL: http://ijmcmed.org/article-1-551-fa.html



دوره 5، شماره 4 - ( 8-1395 ) برگشت به فهرست نسخه ها
International Journal of Molecular and Cellular Medicine (IJMCM) International Journal of Molecular and Cellular Medicine (IJMCM)
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