Karimzadeh Parvaneh, Ahmadabadi Farzad, Aryani Omid, Houshmand Massoud, Khatami Alireza
Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Ardabil University of Medical Sciences, Ardabil, Iran.
Iran J Radiol. 2014 May;11(2):e6913. doi: 10.5812/iranjradiol.6913. Epub 2014 May 15.
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).
佩利措伊斯-默茨巴赫样病（PMLD）是一种髓鞘形成不良性白质脑病，具有遗传异质性模式。GJA12/GJC2基因突变导致一种常染色体隐性佩利措伊斯-默茨巴赫样病。在此，我们报告一名10个月大女童的新突变，该女童患有眼球震颤、精神运动发育迟缓、张力减退、点头症状以及髓鞘形成异常，其父母为健康的近亲。基因研究显示在第2外显子中有c902 - 918del的纯合缺失。根据我们的研究以及其他中东国家最近的报告，我们认为GJA12基因突变在该地区很常见，但我们未发现任何关于此新突变（c902 - 918Del）的既往报告。
