Document Detail


Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy.
MedLine Citation:
PMID:  15902656     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
François-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.
Authors:
Shouling Li; Leila Tiab; Xiaodong Jiao; Francis L Munier; Leonidas Zografos; Béatrice E Frueh; Yuri Sergeev; Janine Smith; Benjamin Rubin; Mario A Meallet; Richard K Forster; J Fielding Hejtmancik; Daniel F Schorderet
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2005-05-18
Journal Detail:
Title:  American journal of human genetics     Volume:  77     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  2005 Jul 
Date Detail:
Created Date:  2005-06-02     Completed Date:  2005-08-29     Revised Date:  2010-09-06    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  54-63     Citation Subset:  IM    
Affiliation:
Ophthalmic Genetics and Clinical Services Branch, National Eye Institute, Bethesda, MD, USA.
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MeSH Terms
Descriptor/Qualifier:
1-Phosphatidylinositol 3-Kinase / genetics*
Base Sequence
Chromosomes, Human, Pair 2
Corneal Dystrophies, Hereditary / genetics*
Female
Genes, Dominant
Humans
Male
Models, Molecular
Mutation
Pedigree
Chemical
Reg. No./Substance:
EC 2.7.1.137/1-Phosphatidylinositol 3-Kinase; EC 2.7.1.137/PIKFYVE protein, human
Comments/Corrections

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