双侧白内障与高血清铁蛋白：一种新的显性遗传病？
Bilateral cataract and high serum ferritin: a new dominant genetic disorder?
作者信息
Bonneau D, Winter-Fuseau I, Loiseau M N, Amati P, Berthier M, Oriot D, Beaumont C
机构信息
Service de Pédiatrie et Génétique, CHU de Poitiers, France.
出版信息
J Med Genet. 1995 Oct;32(10):778-9. doi: 10.1136/jmg.32.10.778.
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.
摘要
本文报道了一个三代家系中显性遗传白内障与血清铁蛋白水平异常升高的共分离现象。在这个家族中，所有患白内障的个体循环中的L型铁蛋白升高，与铁过载无关。我们认为铁蛋白代谢紊乱可能是导致晶状体混浊的一种新的遗传疾病。白内障-高铁蛋白血症综合征也可能是一种新的相邻基因综合征，涉及L型铁蛋白基因和编码晶状体膜蛋白（MP19）的基因，这两个基因都定位于19号染色体q区的同一区域。
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