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Partial duplication of DHH causes minifascicular neuropathy: A novel mutation detection of DHH

Naoko Saito Sato1,2, Risa Maekawa2, Hiroyuki Ishiura1

  • 1Department of Neurology Graduate School of Medicine The University of Tokyo Tokyo Japan.

Annals of Clinical and Translational Neurology
|June 8, 2017
PubMed

Insights

Mutations in the desert hedgehog (DHH) gene cause minifascicular neuropathy (MN) and 46XY gonadal dysgenesis (GD). DHH is crucial for peripheral nerve development and male sex differentiation.

Area of Science:

  • Developmental biology
  • Genetics
  • Neurology

Background:

  • Minifascicular neuropathy (MN) is a rare peripheral nerve malformation characterized by numerous small fascicles.
  • A single prior case linked MN with 46XY gonadal dysgenesis (GD) to a desert hedgehog (DHH) gene mutation.

Purpose of the Study:

  • To investigate the genetic cause of MN in families with 46XY gonadal dysgenesis.
  • To confirm the role of the DHH gene in MN pathogenesis and male gonadal development.

Main Methods:

  • Genetic analysis of two consanguineous families affected by MN.
  • Identification and characterization of novel DHH gene mutations.

Main Results:

  • Identical novel rearrangement mutations in the DHH gene were found in all affected individuals with MN and 46XY GD.
  • Patients with 46XY karyotype carrying the mutation developed GD, while a 46XX individual did not.

Conclusions:

  • Mutations in the DHH gene are causative for MN and 46XY GD.
  • DHH plays a critical role in both peripheral nerve formation and male gonadal differentiation.

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