New PAX6 Mutations Linked to Eye and Brain Abnormalities
Author Information
Author(s): Dansault Anouk, David Gabriel, Schwartz Claire, Jaliffa Carolina, Vieira Véronique, de la Houssaye Guillaume, Bigot Karine, Catin Françise, Tattu Laurent, Chopin Catherine, Halimi Philippe, Roche Olivier, Van Regemorter Nicole, Munier Francis, Schorderet Daniel, Dufier Jean-Louis, Marsac Cécile, Ricquier Daniel, Menasche Maurice, Penfornis Alfred, Abitbol Marc
Primary Institution: Université René Descartes-Paris V
Hypothesis
PAX6 mutations may cause a range of ocular and neurodevelopmental abnormalities.
Conclusion
The study identified three novel PAX6 mutations associated with various ocular phenotypes and neurodevelopmental issues.
Supporting Evidence
- Three novel heterozygous mutations were identified in unrelated families.
- The L46P mutation was linked to bilateral microphthalmia and cataracts.
- The S74G mutation was associated with cognitive impairments and neurological issues.
Takeaway
Scientists found new changes in a gene called PAX6 that can cause eye problems and affect how the brain develops.
Methodology
Patients were phenotyped and the PAX6 gene was screened by direct sequencing.
Limitations
The study may have overlooked mutations outside the studied genomic region.
Participant Demographics
Participants included 78 individuals aged 0 to 73, with various ocular and neurological conditions.
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