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, Simeon Boyd, S. R. Dlouhy, K. Silver, V. M. Der Kaloustian, M. E. Hodes

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

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
Volume55
Issue number4
DOIs
StatePublished - 1995
Externally publishedYes

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Pelizaeus-Merzbacher Disease
Proteolipids
Point Mutation
Exons
Codon
Mutation
Viverridae
Proteins
Fetus
Mothers
Polymerase Chain Reaction

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene. / Pratt, V. M.; Boyd, Simeon; Dlouhy, S. R.; Silver, K.; Der Kaloustian, V. M.; Hodes, M. E.

In: American Journal of Medical Genetics, Vol. 55, No. 4, 1995, p. 402-404.

Research output: Contribution to journalArticle

Pratt, V. M. ; Boyd, Simeon ; Dlouhy, S. R. ; Silver, K. ; Der Kaloustian, V. M. ; Hodes, M. E. / Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene. In: American Journal of Medical Genetics. 1995 ; Vol. 55, No. 4. pp. 402-404.
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