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, Stephen 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
Pages (from-to)402-404
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume55
Issue number4
DOIs
StatePublished - 1995

Fingerprint

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.; Boyadjiev, S.; Dlouhy, Stephen; 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. ; Boyadjiev, S. ; Dlouhy, Stephen ; 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.
@article{bf19fd2c6a624ed1b076f99bc0d804f7,
title = "Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene",
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.",
author = "Pratt, {V. M.} and S. Boyadjiev and Stephen Dlouhy and K. Silver and {Der Kaloustian}, {V. M.} and Hodes, {M. E.}",
year = "1995",
doi = "10.1002/ajmg.1320550403",
language = "English",
volume = "55",
pages = "402--404",
journal = "American Journal of Medical Genetics, Part C: Seminars in Medical Genetics",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "4",

}

TY - JOUR

T1 - Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene

AU - Pratt, V. M.

AU - Boyadjiev, S.

AU - Dlouhy, Stephen

AU - Silver, K.

AU - Der Kaloustian, V. M.

AU - Hodes, M. E.

PY - 1995

Y1 - 1995

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0028954678&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0028954678&partnerID=8YFLogxK

U2 - 10.1002/ajmg.1320550403

DO - 10.1002/ajmg.1320550403

M3 - Article

C2 - 7539212

AN - SCOPUS:0028954678

VL - 55

SP - 402

EP - 404

JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

SN - 1552-4825

IS - 4

ER -