<unk>  is caused by X-linked recessive mutations in the major myelin protein proteolipid protein 1 (PLP1). This causes hypomyelination in the central nervous system and severe neurological disease. The majority of mutations result in duplications of the entire PLP1 gene. Deletions of PLP1 locus (which are rare) cause a milder form of<unk>  than is observed with the typical duplication mutations, which demonstrates the critical importance of gene dosage at this locus for normal CNS function.
Pelizaeus–Merzbacher disease
Axenfeld–Rieger syndrome
Kufor–Rakeb syndrome
Zunich–Kaye syndrome
Letterer–Siwe disease
Cornelia de Lange syndrome
Sturge–Weber syndrome
Hurler–Scheie syndrome