Title of article
New Mutation of Pelizaeus-Merzbacher-Like Disease; A Report from Iran
Author/Authors
Karimzadeh, Parvaneh shahid beheshti university of medical sciences - Pediatric Neurology Research Center, تهران, ايران , Ahmadabadi, Farzad ardabil university of medical sciences, ايران , Aryani, Omid Special Medical Center, ايران , Houshmand, Massoud National Institute for Genetic Engineering and Biotechnology - Department of Human Genetics, ايران , Khatami, Alireza shahid beheshti university of medical sciences - Pediatric Neurology Research Center, تهران, ايران
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Abstract
Pelizaeus-Merzbacher-like disease (PMLD) is a hypomyelinating leukoencephalopathy disorder with a genetically heterogeneous pattern. Mutations in the GJA12/GJC2 gene cause one form of autosomal recessive Pelizaeus-Merzbacher-like disease. Here, we report a new mutation in a 10-month-old girl with nystagmus, psychomotor delay, hypotonicity, head nodding and dysmyelination from healthy second cousin parents. The genetic study showed a homozygote deletion as c902-918del in the exone 2. According to our study and recent reports from other Middle East countries, we suggest GJA12 gene mutations are common in this area, but we didnot find any previous report about this new mutation (c902-918Del).
Keywords
Pelizaeus , Merzbacher , Like Disease , Neurodegenerative Disease Leukodencephalopathy , Children
Journal title
Iranian Journal of Radiology (IJR)
Journal title
Iranian Journal of Radiology (IJR)
Record number
2579725
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