TGFBI (BIGH3) gene mutations in German families: two novel mutations associated with unique clinical and histopathological findings.

Détails

ID Serval
serval:BIB_234ECB2DAECE
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
TGFBI (BIGH3) gene mutations in German families: two novel mutations associated with unique clinical and histopathological findings.
Périodique
British journal of ophthalmology
Auteur(s)
Gruenauer-Kloevekorn C., Clausen I., Weidle E., Wolter-Roessler M., Tost F., Völcker H.E., Schulze D.P., Heinritz W., Reinhard T., Froster U., Duncker G., Schorderet D., Auw-Haedrich C.
ISSN
1468-2079[electronic]
Statut éditorial
Publié
Date de publication
2009
Peer-reviewed
Oui
Volume
93
Numéro
7
Pages
932-7
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't - Publication Status: ppublish
Résumé
BACKGROUND: To report the clinical, histopathological and immunohistochemical findings of two novel mutations within the TGFBI gene. METHODS: The genotype of 41 affected members of 16 families and nine sporadic cases was investigated by direct sequencing of the TGFBI gene. Clinical, histological and immunohistochemical characteristics of corneal opacification were reported and compared with the coding region changes in the TGFBI gene. RESULTS: A novel mutation Leu509Pro was detected in one family with a geographic pattern-like clinical phenotype. Histopathologically we found amyloid together with non-amyloid deposits and immunohistochemical staining of Keratoepithelin (KE) KE2 and KE15 antibodies. In two families and one sporadic case the novel mutation Gly623Arg with a late-onset, map-like corneal dystrophy was identified. Here amyloid and immunohistochemical staining of only KE2 antibodies occurred. Further, five already known mutations are reported: Arg124Cys Arg555Trp Arg124His His626Arg, Ala546Asp in 13 families and five sporadic cases of German origin. The underlying gene defect within the TBFBI gene was not identified in any of the four probands with Thiel-Behnke corneal dystrophy. CONCLUSIONS: The two novel mutations within the TGFBI gene add another two phenotypes with atypical immunohistochemical and histopathological features to those so far reported.
Mots-clé
Adult, Age Factors, Corneal Dystrophies, Hereditary/genetics, Corneal Dystrophies, Hereditary/pathology, DNA Mutational Analysis, Extracellular Matrix Proteins/genetics, Female, Genetic Predisposition to Disease/genetics, Humans, Male, Mutation/genetics, Pedigree, Phenotype, Transforming Growth Factor beta/genetics, Visual Acuity/genetics, Young Adult
Pubmed
Web of science
Création de la notice
30/09/2009 17:31
Dernière modification de la notice
20/08/2019 14:00
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