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Bilateral cataract and high serum ferritin: a new dominant genetic disorder?
Authors:Dominique Bonneau  Isabelle Winter-Fuseau  Marie-No?lle Loiseau  Patrizia Amati  Michel Berthier  Denis Oriot  Carole Beaumont
Institution: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
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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