BILATERAL CATARACT AND HIGH SERUM FERRITIN - A NEW DOMINANT GENETIC DISORDER

Citation
D. Bonneau et al., BILATERAL CATARACT AND HIGH SERUM FERRITIN - A NEW DOMINANT GENETIC DISORDER, Journal of Medical Genetics, 32(10), 1995, pp. 778-779
Citations number
7
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00222593
Volume
32
Issue
10
Year of publication
1995
Pages
778 - 779
Database
ISI
SICI code
0022-2593(1995)32:10<778:BCAHSF>2.0.ZU;2-8
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 sub jects 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 als o be a new contiguous gene syndrome involving the L ferritin gene and the gene coding for the lens membrane protein (MP19), which both map t o the same region of chromosome 19q.