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Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations.

Isis B T Joosten1,2, Debby M E I Hellebrekers3, Bianca T A de Greef1,2,4

  • 1Department of Neurology, Maastricht University Medical Center+, Maastricht, The Netherlands.

European Journal of Human Genetics : EJHG
|March 24, 2020
PubMed
Summary

Paternal transmission of myotonic dystrophy type 1 (DM1) CTG repeat expansions is more unstable than maternal transmission. This finding highlights the increased risk of symptomatic offspring from fathers, informing genetic counseling for DM1 carriers.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Neurology

Background:

  • Myotonic dystrophy type 1 (DM1) is a genetic disorder caused by CTG trinucleotide repeat expansions in the DMPK gene on chromosome 19q13.3.
  • DM1 premutation (36-50 repeats) and protomutation (51-80 repeats) alleles are typically asymptomatic, but offspring risk expanded, disease-associated repeats (>80 repeats).

Purpose of the Study:

  • To investigate the intergenerational instability of DM1 pre- and protomutation alleles.
  • To determine the influence of parental gender on CTG repeat expansion and transmission in offspring.

Main Methods:

  • Retrospective analysis of 146 parent-child pairs from the DM1 patient cohort at Maastricht University Medical Center+.
  • CTG repeat size determination using (triplet-primed) PCR and fragment length analysis, complemented by Southern blot analysis.

Main Results:

  • Paternal transmission resulted in >80 CTG repeats in 71.6% of offspring, versus 23.1% for maternal transmission (p < 0.001).
  • Paternal instability was observed with repeats ≥45, while maternal instability occurred only with repeats ≥71.
  • Paternally transmitted pre- and protomutations showed significantly higher instability than maternally transmitted ones.

Conclusions:

  • Paternal transmission of DM1 pre- and protomutations is more unstable than maternal transmission.
  • Males with small DMPK mutations have a higher risk of transmitting expanded, disease-causing CTG repeats to their offspring.
  • Sex-dependent factors should be considered in genetic counseling for individuals carrying small CTG repeat expansions associated with DM1.