Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia

Benjamin D. Solomon, Daniel E. Pineda-Alvarez, Joan Z. Balog, Donald Hadley, Andrea L. Gropman, Radha Nandagopal, Joan C. Han, Jin S. Hahn, Delphine Blain, Brian Brooks, Maximilian Muenke

Research output: Contribution to journalArticlepeer-review

78 Scopus citations

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 languageEnglish
Pages (from-to)2543-2546
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume149
Issue number11
DOIs
StatePublished - Nov 2009
Externally publishedYes

Keywords

  • Aniridia
  • Microophthalmia
  • Neonatal diabetes mellitus
  • PAX6

Fingerprint

Dive into the research topics of 'Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia'. Together they form a unique fingerprint.

Cite this