This article is a US Government work and, as such, is in the public domain in the United States of America
Version of Record online: 28 OCT 2009
Published 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 11, pages 2543–2546, November 2009
How to Cite
Solomon, B. D., Pineda-Alvarez, D. E., Balog, J. Z., Hadley, D., Gropman, A. L., Nandagopal, R., Han, J. C., Hahn, J. S., Blain, D., Brooks, B. and Muenke, M. (2009), Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia. Am. J. Med. Genet., 149A: 2543–2546. doi: 10.1002/ajmg.a.33081
How to cite this article: Solomon BD, Pineda-Alvarez DE, Balog JZ, Hadley D, Gropman AL, Nandagopal R, Han JC, Hahn JS, Blain D, Brooks B, Muenke M. 2009. Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia. Am J Med Genet Part A 149A:2543–2546.
- Issue online: 28 OCT 2009
- Version of Record online: 28 OCT 2009
- Manuscript Accepted: 2 AUG 2009
- Manuscript Received: 22 JUL 2009
- National Human Genome Research Institute, National Institutes of Health
- neonatal diabetes mellitus
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 from each 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. Published 2009 Wiley-Liss, Inc.