a novel nonsense mutation in pank2 gene in two patients with pantothenate kinase-associated neurodegeneration
نویسندگان
چکیده
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.
منابع مشابه
A Novel Nonsense mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration
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 biosynthe...
متن کاملA Novel Nonsense Mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration
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 biosynthe...
متن کاملPantothenate kinase-associated neurodegeneration in two Chinese children: identification of a novel PANK2 gene mutation.
Pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome), the most prevalent form of neurodegeneration with brain iron accumulation, is a rare degenerative brain disease characterised by predominantly extrapyramidal dysfunction resulting from mutations in the PANK2 (pantothenate kinase 2) gene. Using DNA mutation analysis, the authors identified a novel missense m...
متن کاملNovel PANK2 mutation in the first Greek compound heterozygote patient with pantothenate-kinase-associated neurodegeneration
Pantothenate-kinase-associated neurodegeneration is the most common autosomal recessive form of neurodegeneration with brain iron accumulation. Less than 100 mutations in PANK2 gene (20p13) are responsible for classic and atypical cases. We report here the first Greek case of atypical pantothenate-kinase-associated neurodegeneration, confirmed by molecular analysis that revealed two trans-actin...
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BACKGROUND Pantothenate-kinase-associated neurodegeneration (PKAN) is an autosomal recessive neurodegenerative disorder that is characterized by progressive extrapyramidal signs, visual loss, and cognitive impairment. PKAN is caused by mutations in the pantothenate kinase gene (PANK2), which is located on chromosome 20p13 and encodes pantothenate kinase, the key regulatory enzyme in coenzyme-A ...
متن کاملPantothenate Kinase Associated Neurodegeneration in Two Brothers.
1. Clinic 3D Diagnóstico por Imagem. Hospital Casa de Portugal. Rio de Janeiro. Brasil. 2. Department of Radiology. Hospital Casa de Portugal. Rio de Janeiro. Brasil. 3. Universidade do Grande Rio. Rio de Janeiro. Brasil. Autor correspondente: Bruno Niemeyer de Freitas Ribeiro. [email protected]. Recebido: 22 de Dezembro de 2014 Aceite: 15 de Março de 2015 | Copyright © Ordem dos Méd...
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عنوان ژورنال:
international journal of molecular and cellular medicineجلد ۵، شماره ۴، صفحات ۰-۰
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