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Case Reports
. 2009 Nov;149A(11):2543-6.
doi: 10.1002/ajmg.a.33081.

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

Benjamin D Solomon  1 , 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
Affiliations
Case Reports

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

Benjamin D Solomon et al. Am J Med Genet A. 2009 Nov.

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 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.

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Figures

Figure 1
Figure 1
Propositus with compound heterozygosity for mutations in PAX6. Facial features were consistent with trisomy 21, and were also notable for extreme microcephaly, microophthalmia, and a smooth philtrum. Axial, coronal, and sagittal (from top) brain MRI demonstrates complex structural brain anomaly in propositus.
Figure 2
Figure 2
Family pedigree.
Figure 3
Figure 3
Photos of parents' ocular findings (mother on left, father on right).
See this image and copyright information in PMC

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