Effects of the sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring

T. Ashizawa, P. W. Dunne, P. A. Ward, W. K. Seltzer, Carolyn (Sue) Richards

Research output: Contribution to journalArticle

46 Citations (Scopus)

Abstract

The mutation responsible for myotonic dystrophy (DM) is an unstable expansion of the CTG repeat within the myotonin protein kinase gene. To examine whether the parental origin of the expanded repeat influences the repeat size in offspring, we studied 51 father-child and 59 mother-child pairs with DM. Small expansions in fathers resulted in larger size expansions in their offspring, while large paternal expansions resulted in less size change in their offspring. However, there was no correlation between maternal size expansion and size increase in offspring for either congenital or noncongenital DM. These data suggest that the sex of the affected parent influences the unstable expansion of the repeat in DM offspring. While some evidence suggests that DNA methylation status cannot explain this observation, the mechanism for differential maternal/paternal transmission expansion is currently unknown.

Original languageEnglish (US)
Pages (from-to)120-122
Number of pages3
JournalNeurology
Volume44
Issue number1
StatePublished - 1994
Externally publishedYes

Fingerprint

Trinucleotide Repeats
Myotonic Dystrophy
Mothers
Fathers
DNA Methylation
Mutation
Genes
Triplet
Repeats
Offspring

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology
  • Neuroscience(all)

Cite this

Effects of the sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring. / Ashizawa, T.; Dunne, P. W.; Ward, P. A.; Seltzer, W. K.; Richards, Carolyn (Sue).

In: Neurology, Vol. 44, No. 1, 1994, p. 120-122.

Research output: Contribution to journalArticle

Ashizawa, T. ; Dunne, P. W. ; Ward, P. A. ; Seltzer, W. K. ; Richards, Carolyn (Sue). / Effects of the sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring. In: Neurology. 1994 ; Vol. 44, No. 1. pp. 120-122.
@article{4e4e4ce70883439b845b78b7f0958305,
title = "Effects of the sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring",
abstract = "The mutation responsible for myotonic dystrophy (DM) is an unstable expansion of the CTG repeat within the myotonin protein kinase gene. To examine whether the parental origin of the expanded repeat influences the repeat size in offspring, we studied 51 father-child and 59 mother-child pairs with DM. Small expansions in fathers resulted in larger size expansions in their offspring, while large paternal expansions resulted in less size change in their offspring. However, there was no correlation between maternal size expansion and size increase in offspring for either congenital or noncongenital DM. These data suggest that the sex of the affected parent influences the unstable expansion of the repeat in DM offspring. While some evidence suggests that DNA methylation status cannot explain this observation, the mechanism for differential maternal/paternal transmission expansion is currently unknown.",
author = "T. Ashizawa and Dunne, {P. W.} and Ward, {P. A.} and Seltzer, {W. K.} and Richards, {Carolyn (Sue)}",
year = "1994",
language = "English (US)",
volume = "44",
pages = "120--122",
journal = "Neurology",
issn = "0028-3878",
publisher = "Lippincott Williams and Wilkins",
number = "1",

}

TY - JOUR

T1 - Effects of the sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring

AU - Ashizawa, T.

AU - Dunne, P. W.

AU - Ward, P. A.

AU - Seltzer, W. K.

AU - Richards, Carolyn (Sue)

PY - 1994

Y1 - 1994

N2 - The mutation responsible for myotonic dystrophy (DM) is an unstable expansion of the CTG repeat within the myotonin protein kinase gene. To examine whether the parental origin of the expanded repeat influences the repeat size in offspring, we studied 51 father-child and 59 mother-child pairs with DM. Small expansions in fathers resulted in larger size expansions in their offspring, while large paternal expansions resulted in less size change in their offspring. However, there was no correlation between maternal size expansion and size increase in offspring for either congenital or noncongenital DM. These data suggest that the sex of the affected parent influences the unstable expansion of the repeat in DM offspring. While some evidence suggests that DNA methylation status cannot explain this observation, the mechanism for differential maternal/paternal transmission expansion is currently unknown.

AB - The mutation responsible for myotonic dystrophy (DM) is an unstable expansion of the CTG repeat within the myotonin protein kinase gene. To examine whether the parental origin of the expanded repeat influences the repeat size in offspring, we studied 51 father-child and 59 mother-child pairs with DM. Small expansions in fathers resulted in larger size expansions in their offspring, while large paternal expansions resulted in less size change in their offspring. However, there was no correlation between maternal size expansion and size increase in offspring for either congenital or noncongenital DM. These data suggest that the sex of the affected parent influences the unstable expansion of the repeat in DM offspring. While some evidence suggests that DNA methylation status cannot explain this observation, the mechanism for differential maternal/paternal transmission expansion is currently unknown.

UR - http://www.scopus.com/inward/record.url?scp=0028058252&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0028058252&partnerID=8YFLogxK

M3 - Article

C2 - 8290046

AN - SCOPUS:0028058252

VL - 44

SP - 120

EP - 122

JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 1

ER -