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Medientyp: E-Artikel Titel: Deletion at 14q22‐23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies Beteiligte: Nolen, Leisha D.; Amor, David; Haywood, Ashley; St. Heaps, Luke; Willcock, Chris; Mihelec, Marija; Tam, Patrick; Billson, Frank; Grigg, John; Peters, Greg; Jamieson, Robyn V. Erschienen: Wiley, 2006 Erschienen in: American Journal of Medical Genetics Part A Sprache: Englisch DOI: 10.1002/ajmg.a.31335 ISSN: 1552-4825; 1552-4833 Schlagwörter: Genetics (clinical) ; Genetics Entstehung: Anmerkungen: Beschreibung: <jats:title>Abstract</jats:title><jats:p>Anophthalmia and pituitary gland hypoplasia are both debilitating conditions where the underlying genetic defect is unknown in the majority of cases. We identified a patient with bilateral anophthalmia and absence of the optic nerves, chiasm and tracts, as well as pituitary gland hypoplasia and ear anomalies with a de novo apparently balanced chromosomal translocation, 46,XY,t(3;14)(q28;q23.2). Translocation breakpoint analysis using FISH and high‐resolution microarray comparative genomic hybridization (CGH) has identified a 9.66 Mb deleted region on the long arm of chromosome 14 which includes the genes <jats:italic>BMP4</jats:italic>, <jats:italic>OTX2</jats:italic>, <jats:italic>RTN1</jats:italic>, <jats:italic>SIX6</jats:italic>, <jats:italic>SIX1</jats:italic>, and <jats:italic>SIX4</jats:italic>. Three other patients with interstitial deletions involving 14q22‐23 have been described, all with bilateral anophthalmia, pituitary abnormalities, ear anomalies, and a facial phenotype similar to our patient. <jats:italic>OTX2</jats:italic> is involved in ocular developmental defects, and the severity of the ocular phenotype in our patient and the other 14q22‐23 deletion patients, suggests this genomic region harbors other gene/s involved in ocular development. <jats:italic>BMP4</jats:italic> haploinsufficiency is predicted to contribute to the ocular phenotype on the basis of its expression pattern and observed murine mutant phenotypes. In addition, deletion of <jats:italic>BMP4</jats:italic> and <jats:italic>SIX6</jats:italic> is likely to contribute to the abnormal pituitary development, and <jats:italic>SIX1</jats:italic> deletion may contribute to the ear and other craniofacial features. This indicates that contiguous gene deletion may contribute to the phenotypic features in the 14q22‐23 deletion patients. © 2006 Wiley‐Liss, Inc.</jats:p>