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   ENAM mutations with incomplete penetrance  
   
نویسنده seymen f. ,lee k.-e. ,koruyucu m. ,gencay k. ,bayram m. ,tuna e.b. ,lee z.h. ,kim j.-w.
منبع journal of dental research - 2014 - دوره : 93 - شماره : 10 - صفحه:988 -992
چکیده    Amelogenesis imperfecta (ai) is a genetic disease affecting tooth enamel formation. ai can be an isolated entity or a phenotype of syndromes. to date,more than 10 genes have been associated with various forms of ai. we have identified 2 unrelated turkish families with hypoplastic ai and performed mutational analysis. whole-exome sequencing identified 2 novel heterozygous nonsense mutations in the enam gene (c.454g>t p.glu152∗ in family 1,c.358c>t p.gln120∗ in family 2) in the probands. affected individuals were heterozygous for the mutation in each family. segregation analysis within each family revealed individuals with incomplete penetrance or extremely mild enamel phenotype,in spite of having the same mutation with the other affected individuals. we believe that these findings will broaden our understanding of the clinical phenotype of ai caused by enam mutations. © international & american associations for dental research.
کلیدواژه amelogenesis imperfecta; enamel; enamelin; expressivity; hypoplastic; tooth
آدرس department of pedodontics,faculty of dentistry,istanbul university,istanbul, Turkey, department of pediatric dentistry,school of dentistry,seoul national university,seoul, South Korea, department of pedodontics,faculty of dentistry,istanbul university,istanbul, Turkey, department of pedodontics,faculty of dentistry,istanbul university,istanbul, Turkey, department of pedodontics,faculty of dentistry,istanbul university,istanbul, Turkey, department of pedodontics,faculty of dentistry,istanbul university,istanbul, Turkey, department of cell and developmental biology,school of dentistry,seoul national university,seoul, South Korea, department of pediatric dentistry,school of dentistry,seoul national university,seoul,south korea,department of molecular genetics,school of dentistry,seoul national university,seoul, South Korea
 
     
   
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