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New mutation of pelizaeus--merzbacher-like disease; a report from iran
Parvaneh Karimzadeh1, Farzad Ahmadabadi2, Omid Aryani3
1Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, 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).
Insights
Pelizaeus-Merzbacher-like disease (PMLD) is a rare neurological disorder. A novel GJA12 gene mutation, c.902-918Del, was identified in a child with PMLD, suggesting increased prevalence in the Middle East.
Area of Science:
- Genetics
- Neurology
- Molecular Biology
Background:
- Pelizaeus-Merzbacher-like disease (PMLD) is a rare, inherited hypomyelinating leukoencephalopathy.
- Mutations in the GJA12/GJC2 gene are known to cause autosomal recessive forms of PMLD.
Observation:
- A case study of a 10-month-old girl presenting with nystagmus, psychomotor delay, hypotonicity, head nodding, and dysmyelination.
- The patient's parents were healthy second cousins, indicating a potential for recessive inheritance.
Findings:
- Genetic analysis revealed a novel homozygous deletion, c.902-918Del, in exon 2 of the GJA12 gene.
- This specific mutation has not been previously reported in scientific literature.
Implications:
- The findings suggest that GJA12 gene mutations may be more prevalent in the Middle East population.
- This discovery contributes to understanding the genetic heterogeneity of PMLD and highlights the need for broader genetic screening.
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