Bilateral cataract and high serum ferritin: a new dominant genetic disorder? |
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Authors: | Dominique Bonneau Isabelle Winter-Fuseau Marie-No?lle Loiseau Patrizia Amati Michel Berthier Denis Oriot Carole Beaumont |
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Affiliation: | 1Service de Pédiatrie et Génétique, CHU de Poitiers, BP 577, 86021 Poitiers Cedex, France;Unité INSERM U409, Génétique et Pathologie Moléculaire de l''Hématopoiése, Faculté de Médecine Bichat, BP 416, 75870 Paris Cedex 8, France |
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Abstract: | This paper reports the cosegregation in a three generation pedigree of dominantly inherited cataract with an abnormally high level of serum ferritin. In this family, circulating L ferritin was raised in all subjects affected by cataract independently of iron overload. We suggest that a disorder of ferritin metabolism could be a new genetic disorder leading to lens opacity. Cataract-hyperferritaemia syndrome could also be a new contiguous gene syndrome involving the L ferritin gene and the gene coding for the lens membrane protein (MP19), which both map to the same region of chromosome 19q. |
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