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Clinical and Genetic Characteristics of Children with Pelizaeus-Merzbacher Disease

Haolin Chen1, Chaonan Yu2, Yuanhong Ji3

  • 1School of Medicine, Sun Yat-sen University, Shenzhen, Guangdong, China.

Journal of Child Neurology
|June 21, 2026
PubMed

Insights

Early diagnosis of Pelizaeus-Merzbacher disease (PMD) is possible through chromosomal copy number variation (CNV) detection. This study highlights genetic testing for PLP1 mutations and CNVs in patients with PMD symptoms.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive neurological disorder.
  • Symptoms include dystonia, ataxia, nystagmus, and motor delays, often leading to misdiagnosis.
  • The PLP1 gene is crucial for myelin production in the central nervous system.

Purpose of the Study:

  • To explore early diagnosis of Pelizaeus-Merzbacher disease (PMD).
  • To summarize clinical and genetic characteristics of four PMD patients.
  • To investigate the role of genetic testing in identifying PMD.

Main Methods:

  • Clinical and genetic data from four male patients were analyzed.
  • Whole-exome sequencing and copy number variation (CNV) testing were performed.
  • Genetic analysis focused on the PLP1 gene.

Main Results:

  • Three patients from one family and one from another were diagnosed with classical PMD.
  • Cases 1-3 showed intellectual disability, motor delays, ataxia, and nystagmus, diagnosed via whole-exome and CNV testing.
  • Case 4 had a PLP1 point mutation (c.737G>A) without detectable CNVs.

Conclusions:

  • Early diagnosis of PMD is achievable through chromosomal CNV detection.
  • PLP1 gene duplication is the most common cause of classic PMD.
  • Rare point mutations in PLP1 can also lead to classic PMD, emphasizing comprehensive genetic analysis.

Keywords:
PLP1 genePelizaeus-Merzbacher diseaseclassic PMDduplicationpoint mutations

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