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Am J Med Genet A. 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.

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1
National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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.

PMID:
19876904
PMCID:
PMC2783496
DOI:
10.1002/ajmg.a.33081
[Indexed for MEDLINE]
Free PMC Article
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