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Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive hypomyelination disorder caused by mutations in the proteolipid protein 1 gene () located on chromosome Xq22. A male patient showed severe developmental delay, pendular nystagmus and laryngeal wheezing. The auditory brain stem response showed only the first wave and brain magnetic resonance imaging showed white matter hypomyelination, suggesting typical PMD. A novel  mutation, F240L, which was inherited from his mother, was identified.

A novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease