Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus

V. M. Pratt, Simeon Boyd, K. Green, M. E. Hodes, S. R. Dlouhy

Research output: Contribution to journalArticle

7 Scopus citations


Pelizaeus-Merzbacher disease (PMD) is an X-linked dysmyelinating disorder of the central nervous system. Many cases of PMD can be attributed to defects in the proteolipid protein gene (PLP). To date, with one exception, each family has had either no or a unique mutation in one of the seven exons of PLP. We describe a new missense mutation in exon 2 of the PLP gene of an affected individual. This mutation codes for Ile instead of Thr at codon 42. The point mutation originated in the X chromosome of the maternal great- grandfather of the propositus. This was determined from the pattern of inheritance of the AhaII polymorphism and a series of microsatellite markers that are localized near PLP at Xq22.

Original languageEnglish (US)
Pages (from-to)70-73
Number of pages4
JournalAmerican Journal of Medical Genetics
Issue number1
StatePublished - 1995
Externally publishedYes



  • de novo mutation
  • Pelizaeus-Merzbacher disease

ASJC Scopus subject areas

  • Genetics(clinical)

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