Document Detail


TGFBI gene mutations in corneal dystrophies.
MedLine Citation:
PMID:  16683255     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The lattice corneal dystrophies (LCD) and granular corneal dystrophies (GCD) are autosomal dominant disorders of the corneal stroma. They are bilateral, progressive conditions characterized by the formation of opacities arising due to the deposition of insoluble material in the corneal stroma leading to visual impairment. The LCDs and GCDs are distinguished from each other and are divided into subtypes on the basis of the clinical appearance of the opacities, clinical features of the disease, and on histopathological staining properties of the deposits. The GCDs and most types of LCD arise from mutations in the transforming growth factor beta-induced (TGFBI) gene on chromosome 5q31. Over 30 mutations causing LCD and GCD have been identified so far in the TGFBI. There are two mutation hotspots corresponding to arginine residues at positions 124 and 555 of the transforming growth factor beta induced protein (TGFBIp) and they are the most frequent sites of mutation in various populations. Mutations at either of these two hotspots result in specific types of LCD or GCD. The majority of identified mutations involve residues in the fourth fasciclin-like domain of TGFBIp.
Authors:
Chitra Kannabiran; Gordon K Klintworth
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Human mutation     Volume:  27     ISSN:  1098-1004     ISO Abbreviation:  Hum. Mutat.     Publication Date:  2006 Jul 
Date Detail:
Created Date:  2006-06-26     Completed Date:  2006-08-07     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9215429     Medline TA:  Hum Mutat     Country:  United States    
Other Details:
Languages:  eng     Pagination:  615-25     Citation Subset:  IM    
Copyright Information:
Copyright 2006 Wiley-Liss, Inc.
Affiliation:
Kallam Anji Reddy Molecular Genetics Laboratory, L.V. Prasad Eye Institute, Hyderabad, India. chitra@lvpei.org
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MeSH Terms
Descriptor/Qualifier:
Corneal Dystrophies, Hereditary / classification,  diagnosis*,  genetics*
Extracellular Matrix Proteins / genetics*
Humans
Mutation, Missense*
Phenotype
Transforming Growth Factor beta / genetics*
Chemical
Reg. No./Substance:
0/Extracellular Matrix Proteins; 0/Transforming Growth Factor beta; 148710-76-3/betaIG-H3 protein

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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