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Pathogenesis of congenital diaphragmatic hernia: additional clues regarding the involvement of the endothelin system

Violette Mesdag1, Joris Andrieux, Capucine Coulon

  • 1Université Lille Nord de France, CHRU Lille, France; Service de Gynécologie-Obstétrique, Hôpital Jeanne de Flandre, CHRU Lille, France.

American Journal of Medical Genetics. Part A
|December 20, 2013
PubMed

Insights

A genetic triplication of the EDNRA gene may cause congenital diaphragmatic hernia (CDH), a birth defect affecting diaphragm development. This finding offers new insights into CDH pathogenesis and potential genetic targets.

Area of Science:

  • Genetics
  • Developmental Biology
  • Medical Research

Background:

  • Congenital diaphragmatic hernia (CDH) is a serious birth defect with unknown causes, affecting approximately 1 in 3,000 newborns.
  • Identifying genetic factors is crucial for understanding CDH pathogenesis and developing diagnostic tools.

Observation:

  • A male infant with isolated left posterolateral CDH was found to have a tandem 4q31.23 triplication encompassing the EDNRA gene, identified via array comparative genomic hybridization (array-CGH).
  • This copy number variation was inherited from his asymptomatic father, who carried an identical duplication.

Findings:

  • EDNRA mRNA was over-expressed in the proband's blood tissue.
  • The endothelin system is known to be upregulated in CDH models, and EDNRA is expressed in the developing diaphragm.

Implications:

  • The identified EDNRA triplication is a potential cause of CDH in this patient.
  • This discovery may lead to new diagnostic approaches and therapeutic targets for CDH.
  • Further research into the role of the endothelin system in diaphragm development is warranted.

Keywords:
4q31.23 triplicationcongenital diaphragmatic herniaendothelin receptor Aendothelin-1, pulmonary hypertension

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