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Updated: Jan 25, 2026

Inducible T7 RNA Polymerase-mediated Multigene Expression System, pMGX
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Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with

Lusine Nazaryan-Petersen1, Inês R Oliveira1,2, Mana M Mehrjouy1

  • 1Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.

Human Mutation
|April 30, 2019
PubMed

Insights

Moebius syndrome (MBS) is a rare congenital disorder. A complex chromosomal rearrangement involving chromothripsis was identified in an MBS patient, truncating SEMA3A and PIK3CG genes, offering new insights into MBS genetics.

Area of Science:

  • Genetics
  • Developmental Biology
  • Neuroscience

Background:

  • Moebius syndrome (MBS) is a congenital neurological disorder characterized by facial nerve paralysis and abducens nerve palsy.
  • Genetic mutations in PLXND1 and REV3L are the only confirmed causes of Moebius syndrome to date.

Observation:

  • A patient with Moebius syndrome presented with a complex chromosomal rearrangement (CCR) involving multiple breakpoints, indicative of chromothripsis.
  • Fine mapping of the CCR breakpoints revealed truncation of 12 protein-coding genes, including SEMA3A and PIK3CG.

Findings:

  • SEMA3A, known to interact with the MBS-associated PLXND1, was truncated by the CCR.
  • PIK3CG was also truncated, and in silico analysis suggests interactions with REV3L (encoded by REV3L) and the SEMA3A/PLXND1 complex via FLT1.

Implications:

  • This study highlights the potential role of germline chromothripsis and multiple gene truncations in the etiology of Moebius syndrome.
  • Further investigation of complex rearrangements may uncover additional genetic factors contributing to complex, multigenic disorders like Moebius syndrome.
Keywords:
Moebius syndromePIK3CGSEMA3ASEMA3Dchromothripsis

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