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Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and

Maxim Verlee1,2, Aude Beyens1,2,3, Alper Gezdirici4

  • 1Center for Medical Genetics Ghent, Ghent University Hospital, 9000 Ghent, Belgium.

Genes
|April 3, 2021
PubMed

Insights

This study identifies EFEMP1 as a novel gene causing cutis laxa, a type of hereditary connective tissue disorder. The findings expand our understanding of genetic causes for these complex conditions.

Area of Science:

  • Genetics
  • Molecular Biology
  • Dermatology

Background:

  • Hereditary disorders of connective tissue (HDCT) are a diverse group of genetic conditions affecting the extracellular matrix.
  • These disorders often manifest with widespread symptoms impacting skin, heart, and muscles.

Observation:

  • A 9-year-old boy presented with cutis laxa (CL) and multiple hernias, indicative of a connective tissue disorder.
  • Genetic analysis revealed biallelic loss-of-function variants in the EFEMP1 gene.

Findings:

  • EFEMP1 was identified as a novel gene responsible for a form of cutis laxa.
  • This discovery differentiates this specific CL presentation from other HDCTs.

Implications:

  • This research expands the known genetic spectrum of cutis laxa.
  • Identifying EFEMP1 as a disease-causing gene aids in diagnosing and understanding HDCTs.

Keywords:
EFEMP1FBLN3cutis laxadiaphragmatic herniaelastic fiberextracellular matrixfibulin-3inguinal hernia

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