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Xp11.3 microdeletion causing Norrie disease and X-linked Kabuki syndrome
Mahsaw Mansoor1, Razek Georges Coussa1, Margaret R Strampe1
1Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA.
American Journal of Ophthalmology Case Reports
|January 27, 2023
Summary
This case study details a novel instance of Norrie disease and X-linked Kabuki syndrome in an infant due to a microdeletion. This finding highlights contiguous gene deletions as a cause for varied symptoms in Norrie disease.
Area of Science:
- Genetics
- Ophthalmology
- Pediatrics
Background:
- Norrie disease is a rare X-linked inherited eye disorder.
- X-linked Kabuki syndrome is a rare genetic disorder with distinctive facial features and developmental delays.
Observation:
- A neonate presented with bilateral retrolental fibrovascular plaques, diagnosed as Norrie disease.
- The infant also exhibited congenital heart defects, hearing loss, and dysmorphic facies, alongside his mother's Kabuki syndrome diagnosis.
Findings:
- Genetic analysis revealed an Xp11.3 microdeletion encompassing the NDP and KDM6A genes.
- This microdeletion confirmed the co-occurrence of Norrie disease and X-linked Kabuki syndrome in the infant.
- The mother showed asymptomatic peripheral retinal vascular anomalies, indicative of NDP-associated familial exudative vitreoretinopathy (FEVR).
Implications:
- This is the first reported case of concurrent Norrie disease and X-linked Kabuki syndrome.
- Contiguous gene deletions on the X chromosome can lead to complex phenotypes, including variable systemic involvement in Norrie disease.
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