BILATERAL CATARACT AND HIGH SERUM FERRITIN - A NEW DOMINANT GENETIC DISORDER
BILATERAL CATARACT AND HIGH SERUM FERRITIN - A NEW DOMINANT GENETIC DISORDER
复制标题
DOI：
10.1136/jmg.32.10.778
复制
发表时间：
1995-10-01
影响因子：
4
通讯作者：
BEAUMONT, C
中科院分区：
文献类型：
--
作者：
BONNEAU, D;WINTERFUSEAU, I;BEAUMONT, C
本文报道了三代显性遗传性白内障伴异常高水平血清铁蛋白的共分离。在这个家庭中，所有白内障患者的循环L铁蛋白均升高，与铁超载无关。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-高铁血症综合征也可能是一种新的连续基因综合征，涉及L铁蛋白基因和编码晶状体膜蛋白（MP19）的基因，两者都位于染色体19q的同一区域。
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.