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Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome

Olga S Koutsopoulos1, Christine Kretz, Claudia M Weller

  • 1Department of Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Illkirch, France.

European Journal of Human Genetics : EJHG
|October 25, 2012
PubMed

Insights

We identified a novel homozygous mutation in dynamin 2 (DNM2) causing a severe lethal congenital syndrome. This discovery highlights DNM2

Area of Science:

  • Genetics
  • Molecular Biology
  • Developmental Biology

Background:

  • Dynamin 2 (DNM2) mutations are associated with dominant neuropathies and myopathies.
  • The role of DNM2 in early human development is not fully understood.

Purpose of the Study:

  • To investigate the impact of a novel homozygous DNM2 mutation in a lethal congenital syndrome.
  • To explore the function of DNM2 in vertebrate fetal development.

Main Methods:

  • Genetic sequencing to identify the mutation.
  • In vitro assays (membrane tubulation, trafficking, GTPase activity) to assess protein function.
  • Expression analysis in mouse embryos and knockdown studies in zebrafish.

Main Results:

  • Identified homozygous DNM2 mutation p.Phe379Val in three affected infants with a severe lethal syndrome.
  • The mutation impairs DNM2's endocytic function in vitro.
  • DNM2 knockdown in zebrafish caused muscle and angiogenesis defects, mirroring aspects of the human condition.

Conclusions:

  • Homozygous DNM2 mutations can cause a severe, lethal congenital syndrome.
  • DNM2 plays a critical, pleiotropic role in early vertebrate and human fetal development, affecting multiple organ systems.
  • This finding expands the spectrum of DNM2-related disorders.

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