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Bilateral cataract and high serum ferritin: a new dominant genetic disorder?
  1. Dominique Bonneau1,
  2. Isabelle Winter-Fuseau1,
  3. Marie-Noëlle Loiseau1,
  4. Patrizia Amati1,
  5. Michel Berthier1,
  6. Denis Oriot1,
  7. Carole Beaumont2
  1. 1Service de Pédiatrie et Génétique, CHU de Poitiers, BP 577, 86021 Poitiers Cedex, France
  2. 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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