Abstract
We report on a patient with trisomy 21, microophthalmia, neonatal diabetes mellitus, hypopituitarism, and a complex structural brain anomaly who was a member of a large bilineal family with eye anomalies. The patient inherited a different mutation in PAX6 fromeach parent and is the only known living and second reported patient with compound heterozygosity for mutations in PAX6. PAX6 is a transcription factor involved in eye and brain development and has roles in pancreatic and pituitary development. Clinical evaluation of the propositus and his parents demonstrated the effects of mutations of differing severity in multiple individuals.
Original language | English |
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Pages (from-to) | 2543-2546 |
Number of pages | 4 |
Journal | American Journal of Medical Genetics, Part A |
Volume | 149 |
Issue number | 11 |
DOIs | |
State | Published - Nov 2009 |
Externally published | Yes |
Keywords
- Aniridia
- Microophthalmia
- Neonatal diabetes mellitus
- PAX6