Fraser And Ablepharon Macrostomia Phenotypes: Concurrence In One Family And Association With Mutated Fras1.

dc.creatorCavalcanti, Denise Pontes
dc.creatorMatejas, Verena
dc.creatorLuquetti, Daniela
dc.creatorMello, Marcos Fernando
dc.creatorZenker, Martin
dc.date2007-Feb
dc.date2015-11-27T13:10:36Z
dc.date2015-11-27T13:10:36Z
dc.date.accessioned2018-03-29T01:05:44Z
dc.date.available2018-03-29T01:05:44Z
dc.identifierAmerican Journal Of Medical Genetics. Part A. v. 143A, n. 3, p. 241-7, 2007-Feb.
dc.identifier1552-4825
dc.identifier10.1002/ajmg.a.31426
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/17163535
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/197525
dc.identifier17163535
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1297758
dc.descriptionTo date, Fraser syndrome (FS) and Ablepharon macrostomia syndrome (AMS) have been considered distinct disorders, but they share strikingly similar patterns of congenital abnormalities, specifically craniofacial anomalies. While recent research has led to the identification of the genes FRAS1 and FREM2 as the cause of FS, the genetic basis of AMS continues to be enigmatic. We report on the concurrence of AMS-like and Fraser phenotypes in a Brazilian family. Both affected sibs were homozygous for a novel splice site mutation in the FRAS1 gene. Extensive studies on mRNA expression indicated that this mutation most likely leads to loss of function as most previously reported FRAS1 mutations associated with FS. We conclude that a phenotype resembling AMS is a rare clinical expression of FS with no obvious genotype-phenotype correlation. However, the molecular basis of true AMS which has been reported as a sporadic disorder in all cases but one, and so far with no relation to FS, is probably different and still needs to be further investigated.
dc.description143A
dc.description241-7
dc.languageeng
dc.relationAmerican Journal Of Medical Genetics. Part A
dc.relationAm. J. Med. Genet. A
dc.rightsfechado
dc.rights(c) 2007 Wiley-Liss, Inc.
dc.sourcePubMed
dc.subjectAbnormalities, Multiple
dc.subjectCraniofacial Abnormalities
dc.subjectExtracellular Matrix Proteins
dc.subjectFemale
dc.subjectHumans
dc.subjectInfant, Newborn
dc.subjectMacrostomia
dc.subjectMale
dc.subjectMutation
dc.subjectPhenotype
dc.subjectStillbirth
dc.titleFraser And Ablepharon Macrostomia Phenotypes: Concurrence In One Family And Association With Mutated Fras1.
dc.typeArtículos de revistas


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