Mutations in PIP5K3 are associated with Francois-Neetens mouchetee fleck corneal dystrophy

Details

Serval ID
serval:BIB_301D0790B5AB
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Mutations in PIP5K3 are associated with Francois-Neetens mouchetee fleck corneal dystrophy
Journal
American Journal of Human Genetics
Author(s)
Li  S., Tiab  L., Jiao  X., Munier  F. L., Zografos  L., Frueh  B. E., Sergeev  Y., Smith  J., Rubin  B., Meallet  M. A., Forster  R. K., Hejtmancik  J. F., Schorderet  D. F.
ISSN
0002-9297 (Print)
Publication state
Published
Issued date
07/2005
Volume
77
Number
1
Pages
54-63
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Jul
Abstract
Francois-Neetens fleck corneal dystrophy (CFD) is a rare, autosomal dominant corneal dystrophy characterized by numerous small white flecks scattered in all layers of the stroma. Linkage analysis localized CFD to a 24-cM (18-Mb) interval of chromosome 2q35 flanked by D2S2289 and D2S126 and containing PIP5K3. PIP5K3 is a member of the phosphoinositide 3-kinase family and regulates the sorting and traffic of peripheral endosomes that contain lysosomally directed fluid phase cargo, by controlling the morphogenesis and function of multivesicular bodies. Sequencing analysis disclosed missense, frameshift, and/or protein-truncating mutations in 8 of 10 families with CFD that were studied, including 2256delA, 2274delCT, 2709C-->T (R851X), 3120C-->T (Q988X), IVS19-1G-->C, 3246G-->T (E1030X), 3270C-->T (R1038X), and 3466A-->G (K1103R). The histological and clinical characteristics of patients with CFD are consistent with biochemical studies of PIP5K3 that indicate a role in endosomal sorting.
Keywords
1-Phosphatidylinositol 3-Kinase/*genetics Base Sequence Chromosomes, Human, Pair 2 Corneal Dystrophies, Hereditary/*genetics Female Genes, Dominant Humans Male Models, Molecular Mutation Pedigree
Pubmed
Web of science
Open Access
Yes
Create date
28/01/2008 12:58
Last modification date
20/08/2019 13:14
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