A NOVEL MUTATION IN ASPARTOACYLASE GENE; CANAVAN DISEASE

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ASHRAFI MAHMOUD REZA; TAVASOLI ALI REZA; KATIBEH PEGAH; ARYANI OMID; VAFAEI SHAHI MOHAMMAD

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Journal Paper

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Journal: Iranian Journal of Child Neurology Year:2015 | Volume:9 | Issue:4 Page(s): 54-57

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Title

A NOVEL MUTATION IN ASPARTOACYLASE GENE; CANAVAN DISEASE

Author(s)

Keywords

CANAVAN DISEASE

ASPARTOACYLASE DEFICIENCY

ASPARTOACYLASE ENZYME

ASPA GENE

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.

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APA: Copy

ASHRAFI, MAHMOUD REZA, TAVASOLI, ALI REZA, KATIBEH, PEGAH, ARYANI, OMID, & VAFAEI SHAHI, MOHAMMAD. (2015). A NOVEL MUTATION IN ASPARTOACYLASE GENE; CANAVAN DISEASE. IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN), 9(4), 54-57. SID. https://sid.ir/paper/303588/en

Vancouver: Copy

ASHRAFI MAHMOUD REZA, TAVASOLI ALI REZA, KATIBEH PEGAH, ARYANI OMID, VAFAEI SHAHI MOHAMMAD. A NOVEL MUTATION IN ASPARTOACYLASE GENE; CANAVAN DISEASE. IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN)[Internet]. 2015;9(4):54-57. Available from: https://sid.ir/paper/303588/en

IEEE: Copy

MAHMOUD REZA ASHRAFI, ALI REZA TAVASOLI, PEGAH KATIBEH, OMID ARYANI, and MOHAMMAD VAFAEI SHAHI, “A NOVEL MUTATION IN ASPARTOACYLASE GENE; CANAVAN DISEASE,” IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN), vol. 9, no. 4, pp. 54–57, 2015, [Online]. Available: https://sid.ir/paper/303588/en

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