new mutation of pelizaeus-merzbacher-like disease; a report from iran
نویسندگان
چکیده
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).
منابع مشابه
pelizaeus-merzbacher- disease (pmd) and pelizaeus-merzbacher-like disease (pmld)
how to cite this article: karimzadeh p. pelizaeus-merzbacher- disease (pmd) and pelizaeus-merzbacher-like disease (pmld). iran j child neurol autumn 2014;8:4 (suppl.1):9-10. pls see pdf.
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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 ...
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Pelizaeus-Merzbacher disease (PMD) is a rare and progressive condition affecting the central nervous system. [1] It is one of a group of gene-linked disorders known as the leukodystrophies, which are all characterised by myelin sheath abnormalities. This is due to a mutation in the gene that controls the production of a myelin protein called proteolipid protein 1 (PLP1). The exact type of PLP1 ...
متن کاملPelizaeus-Merzbacher disease.
Pelizaeus-Merzbacher disease (PMD) can now be defined as an X-linked recessive leukodystrophy that is caused by a mutation in the proteolipid protein (PLP) gene on chromosome Xq22. The most common mutation is gene duplication followed in frequency by missense mutations, insertions, and deletions. The clinical spectrum ranges from severe neonatal cases to relatively benign adult forms and X-link...
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عنوان ژورنال:
iranian journal of radiologyجلد ۱۱، شماره ۲، صفحات ۰-۰
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