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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
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LEOPARD Syndrome with a Sporadic PTPN11 Mutation in a Saudi Patient
Hussein M Alshamrani1, Luai M Assaedi2, Jumanah A Bahattab3
1Department of Dermatology, King Abdulaziz University, Jeddah, Saudi Arabia.
Case Reports in Dermatological Medicine
|June 1, 2023
Summary
LEOPARD syndrome, a rare genetic disorder, is often caused by PTPN11 gene mutations. This study documents a PTPN11 mutation in Saudi Arabia, contributing to the limited understanding of LEOPARD syndrome epidemiology.
Area of Science:
- Genetics
- Molecular Biology
- Rare Diseases
Background:
- LEOPARD syndrome (LS) is a rare autosomal dominant disorder.
- It is frequently caused by missense mutations in the PTPN11 gene.
- The epidemiological profile of LS is poorly understood due to its rarity and misdiagnosis potential.
Observation:
- This study reports a documented PTPN11 gene mutation in Saudi Arabia.
- This represents the second such documented case in the region.
- The findings highlight the presence of PTPN11-associated LEOPARD syndrome in the Saudi population.
Findings:
- Confirmation of a PTPN11 gene mutation in a patient with LEOPARD syndrome in Saudi Arabia.
- Adds to the scarce genetic data on LEOPARD syndrome in the Middle East.
- Reinforces the role of PTPN11 mutations in the etiology of LEOPARD syndrome.
Implications:
- Contributes to the limited epidemiological data of LEOPARD syndrome globally.
- May aid in improving diagnostic rates and understanding the genetic landscape of LS in Saudi Arabia.
- Further research into PTPN11 mutations in rare genetic disorders is warranted.
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