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Letters to the Journal

14q22.3 Microdeletion encompassing OTX2 in a five-generation family with microphthalmia, pituitary abnormalities, and intellectual disability

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References

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  • Schilter KF, Schneider A, Bardakjian T, et al. OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype. Clin Genet 2011;79:158–168.
  • Vincent A, Forster N, Maynes JT, et al. for the FORGE Canada Consortium, Héon E. OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium. J Med Genet 2014;51:797–805.
  • Nolen LD, Amor D, Haywood A, et al. Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies. Am J Med Genet A 2006;140:1711–1718.
  • Wyatt A, Bakrania P, Bunyan DJ, et al. Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma. Hum Mutat 2008;29:E278–283.
  • Brisset S, Slamova Z, Dusatkova P, et al. Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23. Mol Cytogenet 2014;28:7–17.

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