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While recent research has led to the identification of the genes<jats:italic>FRAS1<\/jats:italic>and<jats:italic>FREM2<\/jats:italic>as the cause of FS, the genetic basis of AMS continues to be enigmatic. We report on the concurrence of AMS\u2010like and Fraser phenotypes in a Brazilian family. Both affected sibs were homozygous for a novel splice site mutation in the<jats:italic>FRAS1<\/jats:italic>gene. Extensive studies on mRNA expression indicated that this mutation most likely leads to loss of function as most previously reported<jats:italic>FRAS1<\/jats:italic>mutations associated with FS. We conclude that a phenotype resembling AMS is a rare clinical expression of FS with no obvious genotype\u2013phenotype correlation. However, the molecular basis of \u201ctrue\u201d 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. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31426","type":"journal-article","created":{"date-parts":[[2006,12,13]],"date-time":"2006-12-13T04:33:11Z","timestamp":1165984391000},"page":"241-247","source":"Crossref","is-referenced-by-count":19,"title":["Fraser and Ablepharon macrostomia phenotypes: Concurrence in one family and association with mutated<i>FRAS1<\/i>"],"prefix":"10.1002","volume":"143A","author":[{"given":"Denise 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