Overview
Gene (OMIM No.) |
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Function of gene/protein |
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Clinical phenotype (OMIM phenotype no.) | |
Inheritance |
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Ocular features |
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Systemic features | Microphthalmia, syndromic 5 and retinal dystrophy, early onset, with or without pituitary dysfunction:
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Key investigations |
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Molecular diagnosis | Next generation sequencing
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Management | OcularSystemic
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Therapies under research |
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Further information |
References
- Boncinelli E, Gulisano M, Broccoli V. Emx and Otx homeobox genes in the developing mouse brain. J Neurobiol. 1993;24(10):1356‐1366
- Chassaing N, Sorrentino S, Davis EE, et al. OTX2 mutations contribute to the otocephaly-dysgnathia complex. J Med Genet. 2012;49(6):373‐379
- Dateki S, Fukami M, Sato N, Muroya K, Adachi M, Ogata T. OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters. J Clin Endocrinol Metab. 2008;93(10):3697‐3702
- Diaczok D, Romero C, Zunich J, Marshall I, Radovick S. A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. J Clin Endocrinol Metab. 2008;93(11):4351‐4359
- Florell SR, Townsend JJ, Klatt EC, et al. Aprosencephaly and cerebellar dysgenesis in sibs. Am J Med Genet. 1996;63(4):542‐548
- Ragge NK, Brown AG, Poloschek CM, et al. Heterozygous mutations of OTX2 cause severe ocular malformations [published correction appears in Am J Hum Genet. 2005 Aug;77(2):334]. Am J Hum Genet. 2005;76(6):1008‐1022
- Tajima T, Ohtake A, Hoshino M, et al. OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary. J Clin Endocrinol Metab. 2009;94(1):314‐319
- Vincent A, Forster N, Maynes JT, et al. OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium. J Med Genet. 2014;51(12):797‐805