New Mutation of Pelizaeus-Merzbacher-Like Disease; A Report from Iran
Iranian Journal of Radiology: June 30, 2014, 11 (2); e93639
May 15, 2014
Article Type: Case Report
May 14, 2019
May 25, 2013
A. New Mutation of Pelizaeus-Merzbacher-Like Disease; A Report from Iran,
Iran J Radiol.
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).
PelizaeusMerzbacher-Like Disease; Neurodegenerative Disease Leukodencephalopathy; Children
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