Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene

V. M. Pratt, S. Boyadjiev, S. R. Dlouhy, K. Silver, V. M. Der Kaloustian, M. E. Hodes

Research output: Contribution to journalArticle


Single-strand conformational polymorphism analysis of an affected male with Pelizaeus-Merzbacher disease (PMD) showed a slight change in mobility of amplified exon 5 of the proteolipid protein (PLP) gene. The exon was sequenced and a G→A transition at codon 216 was found. This mutation eliminates a BstNI restriction site and creates a MaeI restriction site. In 1989, Gencic et al. reported a mutation that destroyed the same BstNI site, but resulted in a substitution at codon 215 [Am J Hum Genet 45:435-442]. The mutation we report here is also present in the patient's mother and her male fetus as determined by polymerase chain reaction analysis of amniocytes.

Original languageEnglish (US)
Pages (from-to)402-404
Number of pages3
JournalAmerican Journal of Medical Genetics
Issue number4
StatePublished - 1995
Externally publishedYes


ASJC Scopus subject areas

  • Genetics(clinical)

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