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Concurrent mutations in DNAH5 and FOXE3 genes: a unique occurrence in infancy
Asha Krishnamurthy1, Anand Verma2, Sayan Biswas2
1Department of Anatomy, Employee's State Insurance Corporation Gulbarga, Gulbarga, India.
Anatomy & Cell Biology
|February 12, 2026
Summary
Genetic testing identified mutations in DNAH5, linked to primary ciliary dyskinesia (PCD), and FOXE3, associated with eye disorders, in an infant with microphthalmia. This case highlights the genetic basis of complex congenital conditions.
Area of Science:
- Genetics
- Ophthalmology
- Pulmonology
Background:
- Primary ciliary dyskinesia (PCD) is a rare genetic disorder affecting cilia function, leading to respiratory issues.
- Eye developmental disorders, such as microphthalmia, can have various genetic causes.
- Consanguinity increases the risk of autosomal recessive genetic conditions.
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