title: New mutation of pelizaeus--merzbacher-like disease; a report from iran.
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).
authors.affiliation: Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Parvaneh
authors.initials: P
authors.lastname: Karimzadeh
authors.affiliation: Ardabil University of Medical Sciences, Ardabil, Iran.
authors.forename: Farzad
authors.initials: F
authors.lastname: Ahmadabadi
authors.affiliation: Special Medical Center, Tehran, Iran.
authors.forename: Omid
authors.initials: O
authors.lastname: Aryani
authors.affiliation: Department of Human Genetics, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran.
authors.forename: Massoud
authors.initials: M
authors.lastname: Houshmand
authors.affiliation: Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Alireza
authors.initials: A
authors.lastname: Khatami
keywords: Children; Neurodegenerative Disease Leukodencephalopathy; Pelizaeus­Merzbacher-Like Disease