Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2 |
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| Authors: | Agnès Guichet Stéphane Triau Catherine Lépinard Chantal Esculapavit Florence Biquard Philippe Descamps Férechté Encha-Razavi Dominique Bonneau |
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| Institution: | 1. Service de génétique médicale, CHU Angers, France;2. Laboratoire d'anatomie pathologique, CHU Angers, France;3. Service de gynécologie-obstétrique, CHU Angers, France;4. Unité de pathologie f?tale et placentaire, CHU Necker Enfants Malades, Paris, France |
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| Abstract: | We report an interstitial deletion of chromosome 3q26-q28 in a fetus in which anophthalmia had been detected prenatally. FISH analysis, using BAC clones encompassing the SOX2 locus, showed that SOX2 gene was involved in the chromosomal breakpoint of the deletion. This case confirms that haploinsufficiency for SOX2 plays a crucial role in human eye development and emphasizes the necessity of careful chromosomal analysis, including FISH analysis of the 3q region, in case of prenatal discovery of anophthalmia. Copyright © 2004 John Wiley & Sons, Ltd. |
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| Keywords: | primary anophthalmia deletion 3q 26–28 SOX2 FISH |
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