A Novel Mutation in Aspartoacylase Gene; Canavan Disease

Mahmoodreza ASHRAFI, Alireza TAVASOLI, Pegah KATIBEH, Omid ARYANI, Mohammad VAFAEE-SHAHI

Abstract


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How to Cite This Article: Ashrafi MR, Tavasoli AR, Katibeh P, Aryani O, Vafaee-Shahi M. A Novel Mutation In Aspartoacylase Gene; Canavan Disease. Iran J Child Neurol. Autumn 2015; 9(4): 54-57.

Abstract

Objective

Canavan disease (CD) is a type of vacuolating leukodystrophy with autosomal recessive inheritance. Aspartoacylase deficiency results in decrease of myelin biosynthesis, dysmyelination and brain edema. Although CD is a very common in Ashkenazi Jews patients, several cases have been reported from non- Jewish population. This report is based on a homozygous C.202G>A mutation in the ASPA gene identified from an Iranian patient. To our knowledge, this type of mutation has not been reported in non-Jewish population in the literature.


Keywords


Canavan disease; Aspartoacylase deficiency; Aspartoacylase enzyme; ASPA gene

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References


Hoshino H1, Kubota M. Canavan disease: clinical features and recent advances in research. Pediatr Int 2014 Aug;56(4):477-83.

Wijayasinghe YS, Pavlovsky AG, Viola RE. Aspartoacylase catalytic deficiency as the cause of canavan disease: a structural perspective. Biochemistry 2014; 53(30);4970-8.

Baslow MH, Guilfoyle DN. Canavan disease, a rare earlyonset human spongiform leukodystrophy: insights into its genesis and possible clinical interventions. Biochimie 2013; 95(4):946-56.

Di Pietro V, Cavallari U, Amorini AM, et al. New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion. Clin Biochem 2013; 46(18):1902-1904.

Zeng BJ, Pastores GM, Leone P, et al. Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease. Adv Exp Med Biol 2006; 576:165-73.

Hershfield JR, Pattabiraman N, Madhavarao CN, et al. Mutational analysis of aspartoacylase: implications for Canavan disease. Brain Res 2007; 1148, 1-14.

Eke GH, Iscan A, Cece H, et al. A mutation of aspartoacylase gene in a Turkish patient with Canavan disease. Genet Couns 2012; 23(1): 9-12.

Sreenivasan P, Purushothaman KK. Radiological clue to diagnosis of Canavan. Indian J Pediatr 2013; 80(1):75-7.

Hussain R, Daud S, Kakar N, et al. A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family. Mol Biol Rep 2012; 39(5):6197-201.

Kaul R, Gao GP, Matalon R,et al. Canavan disease: mutations among Jewish and non-Jewish patients. Am J Hum Genet 1994; 55(1): 34.

Kaul R, Gao GP, Matalon, et al. Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease. Am J Hum Genet 1996; 59(1):95-102.

Sistermans EA, de Coo RF, van Beerendonk HM, et al. Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population. Eur J Hum Genet 2000; 8(7):557-60.




DOI: https://doi.org/10.22037/ijcn.v9i4.8075

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