Meesmann Corneal Dystrophy (MECD): Report of 2 Families and a Novel Mutation in the Cornea Specific Keratin 12 (KRT12) Gene

Autor:	Daniel F. Schorderet, Francis L. Munier, Violaine d'Allèves Manzi, Olivia Nichini
Rok vydání:	2005
Předmět:	Male Heterozygote Corneal dystrophy Biology Polymerase Chain Reaction Exon Cornea medicine Humans Meesmann Corneal Dystrophy Gene Chromatography High Pressure Liquid Genetics (clinical) Corneal epithelium Corneal Dystrophies Hereditary Genetics Epithelium Corneal Keratin-12 Heterozygote advantage Exons medicine.disease Molecular biology Pedigree Ophthalmology medicine.anatomical_structure Mutation Pediatrics Perinatology and Child Health Mutation (genetic algorithm) Keratins Female Keratin-3
Zdroj:	Ophthalmic Genetics. 26:169-173
ISSN:	1744-5094 1381-6810
Popis:	Purpose: Meesmann corneal dystrophy (MECD) is an autosomal dominant disorder affecting the corneal epithelium. It is caused by heterozygous mutations in KRT3 or KRT12 gene. Actually, 14 mutations have been reported, 1 in KRT3 and 13 in KRT12. These genes were screened in several patients suffering from MECD. Methods: Patients from 2 families were screened for mutation in KRT3 and KRT12. Exons were PCR-amplified and directly sequenced. The new mutation was checked by DHPLC in 51 control individuals of Swiss origin. Results/Conclusions: In one family, the M129T heterozygous mutation was observed in KRT12. In the second family, we identified a novel I426S heterozygous mutation in exon 6 of KRT12.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1b3df9df37c85227e849d7501f3053d https://doi.org/10.1080/13816810500374391 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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