Evidence of clinical and genetic heterogeneity in autosomal dominant congenital cerulean cataracts

Latifa Hilal Laboratoire de Genetique et Biologie Moleculaire de la Faculte des Sciences, Universite IBN Tofail, Kenitra, and Departement d'Oto-Neuro-Ophtalmologie, Service d'Ophtalmologie B, Hopital des Specialites, Rabat, Morocco

Emeline Nandrot Centre de Recherches Therapeutiques en Ophtalmologie de la Faculte de Medecine Necker, EA n°2502 du Ministere de la Recherche et de l'Enseignement Superieur, Universite Rene Descartes, Paris, and Unite INSERM 423, CHU Necker-Enfants Malades, Paris, France

Mohamed Belmekki Laboratoire de Genetique et Biologie Moleculaire de la Faculte des Sciences, Universite IBN Tofail, Kenitra, and Departement d'Oto-Neuro-Ophtalmologie, Service d'Ophtalmologie B, Hopital des Specialites, Rabat, Morocco

Mohamed Chefchaouni Laboratoire de Genetique et Biologie Moleculaire de la Faculte des Sciences, Universite IBN Tofail, Kenitra, and Departement d'Oto-Neuro-Ophtalmologie, Service d'Ophtalmologie B, Hopital des Specialites, Rabat, Morocco

Siham El Bacha Laboratoire de Genetique et Biologie Moleculaire de la Faculte des Sciences, Universite IBN Tofail, Kenitra, and Departement d'Oto-Neuro-Ophtalmologie, Service d'Ophtalmologie B, Hopital des Specialites, Rabat, Morocco

Bouchra Benazzouz Laboratoire de Genetique et Biologie Moleculaire de la Faculte des Sciences, Universite IBN Tofail, Kenitra, and Departement d'Oto-Neuro-Ophtalmologie, Service d'Ophtalmologie B, Hopital des Specialites, Rabat, Morocco

Yassir Hajaji Laboratoire de Genetique et Biologie Moleculaire de la Faculte des Sciences, Universite IBN Tofail, Kenitra, and Departement d'Oto-Neuro-Ophtalmologie, Service d'Ophtalmologie B, Hopital des Specialites, Rabat, Morocco

Olivier Gribouval Centre de Recherches Therapeutiques en Ophtalmologie de la Faculte de Medecine Necker, EA n°2502 du Ministere de la Recherche et de l'Enseignement Superieur, Universite Rene Descartes, Paris, and Unite INSERM 423, CHU Necker-Enfants Malades, Paris, France

Jean-Louis Dufier Centre de Recherches Therapeutiques en Ophtalmologie de la Faculte de Medecine Necker, EA n°2502 du Ministere de la Recherche et de l'Enseignement Superieur, Universite Rene Descartes, Paris, and Unite INSERM 423, CHU Necker-Enfants Malades, Paris, France

Marc Abitbol Centre de Recherches Therapeutiques en Ophtalmologie de la Faculte de Medecine Necker, EA n°2502 du Ministere de la Recherche et de l'Enseignement Superieur, Universite Rene Descartes, Paris, and Unite INSERM 423, CHU Necker-Enfants Malades, Paris, France

Amina Berraho Laboratoire de Genetique et Biologie Moleculaire de la Faculte des Sciences, Universite IBN Tofail, Kenitra, and Departement d'Oto-Neuro-Ophtalmologie, Service d'Ophtalmologie B, Hopital des Specialites, Rabat, Morocco

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Abstract

Autosomal dominant cerulean cataracts (ADCC) have previously been mapped to two loci: one on chromosome 17q24 and the other on chromosome 22q11.2–q12.2, which includes the ß-B2 crystallin (CRYBB2) candidate gene. Using polymorphic markers in these regions (D17S802, D17S836, D17S1806 and CRYBB2, D22S258) for linkage analysis, we excluded these loci in a large Moroccan family presenting with an unusual form of ADCC with early onset of lens opacities and rapid evolution. This finding confirms the clinical and genetic heterogeneity of autosomal dominant congenital cerulean cataracts.

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Evidence of clinical and genetic heterogeneity in autosomal dominant congenital cerulean cataracts

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Evidence of clinical and genetic heterogeneity in autosomal dominant congenital cerulean cataracts

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