Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/67137
Type: Artigo de periódico
Title: Fraser and ablepharon macrostomia phenotypes: Concurrence in one family and association with mutated FRAS1
Author: Cavalcanti, DP
Matejas, V
Luquetti, D
Mello, MF
Zenker, M
Abstract: To 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 moleculal 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. (c) 2006 Wiley-Liss, Inc.
Subject: Fraser syndrome
Ablepharon macrostomia syndrome
cryptophthalmos
renal agenesis
autosomal recessive
molecular genetics
Country: EUA
Editor: Wiley-liss
Rights: fechado
Identifier DOI: 10.1002/ajmg.a.31426
Date Issue: 2007
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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