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Updated: Dec 10, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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A Rare Mutation in the MARVELD2 Gene Can Cause Nonsyndromic Hearing Loss

Zahra Sadeghi1,2, Seyedeh Parisa Chavoshi Tarzjani1, Reyhaneh Sadat Miri Moosavi2

  • 1Department of Genetics, Tehran-North Branch, Islamic Azad University, Tehran, Iran.

International Medical Case Reports Journal
|September 5, 2020
PubMed

Insights

A rare genetic variant in the MARVELD2 gene, previously reported only once, has been identified in an Iranian patient with nonsyndromic hearing loss. This finding marks the second global report and the first in Iran for this specific deafness-associated mutation.

Area of Science:

  • Genetics
  • Molecular Biology
  • Otolaryngology

Background:

  • Nonsyndromic hearing loss (NSHL) is a common genetic disorder with diverse etiologies.
  • The MARVELD2 gene, located at 5q13.2, has been implicated in autosomal recessive NSHL.
  • The specific variant c.1331+1G>A (IVS4+1G>A) in MARVELD2 was previously reported only once in a Pakistani family in 2008.
Keywords:
MARVELD2 genenonsyndromic hearing losswhole exome sequencing

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