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 Citations (Scopus)

Abstract

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
Volume58
Issue number1
DOIs
StatePublished - 1995
Externally publishedYes

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Pelizaeus-Merzbacher Disease
Proteolipids
Exons
Mothers
Mutation
Proteins
Inheritance Patterns
Central Nervous System Diseases
X Chromosome
Missense Mutation
Point Mutation
Codon
Microsatellite Repeats
Grandparents
Genes

Keywords

  • de novo mutation
  • Pelizaeus-Merzbacher disease

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus. / Pratt, V. M.; Boyd, Simeon; Green, K.; Hodes, M. E.; Dlouhy, S. R.

In: American Journal of Medical Genetics, Vol. 58, No. 1, 1995, p. 70-73.

Research output: Contribution to journalArticle

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AU - Hodes, M. E.

AU - Dlouhy, S. R.

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