new mutation of pelizaeus­-merzbacher-like disease; a report from iran

نویسندگان

parvaneh karimzadeh pediatric neurology research center, shahid beheshti university of medical sciences, tehran, iran; pediatric neurology research center, shahid beheshti university of medical sciences, tehran, iran. tel: +98-2122909559, fax: +98-2122909559

farzad ahmadabadi ardabil university of medical sciences, ardabil, iran

omid aryani special medical center, tehran, iran

massoud houshmand department of human genetics, national institute for genetic engineering and biotechnology, tehran, iran

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).

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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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New Mutation of Pelizaeus­-Merzbacher-Like Disease; A Report from Iran

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, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders.

The purpose of this article is to present contemporary information on the clinical and molecular diagnosis and the treatment of Pelizaeus-Merzbacher's disease (PMD) and related leukodystrophies. Various types of mutations of the X-linked proteolipid protein 1 gene (PLP1) that include copy number changes, point mutations, and insertions or deletions of a few bases lead to a clinical spectrum fro...

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Pelizaeus-Merzbacher Disease

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 ...

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Pelizaeus-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 radiology

جلد ۱۱، شماره ۲، صفحات ۰-۰

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