American journal of medical genetics. Part A · 2013
Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders.
СтатьяПоддержка NIH: внешняя программаНазвание и аннотация: Перевод в очереди
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Schanze Denny, Harakalova Magdalena, Stevens Cathy A, Brancati Francesco, Dallapiccola Bruno, Farndon Peter, Ferraz Victor E F, McDonald-McGinn Donna M, Zackai Elaine H, Wright Michael, van Lieshout Stef, Vogel Maartje J, van Haelst Mieke M, Zenker Martin
Аннотация
Ablepharon macrostomia syndrome (AMS; OMIM 200110) is an extremely rare congenital malformation syndrome. It overlaps clinically with Fraser syndrome (FS; OMIM 219000), which is known to be caused by mutations in either FRAS1, FREM2, or GRIP1, encoding components of a protein complex that plays a role in epidermal-dermal interactions during morphogenetic processes. We explored the hypothesis that AMS might be either allelic to FS or caused by mutations in other genes encoding known FRAS1 interacting partners. No mutation in either of these genes was found in a cohort of 11 patients with AMS from 10 unrelated families. These findings demonstrate that AMS is genetically distinct from FS. It is proposed that it constitutes a separate entity within the group of FRAS-FREM complex disorders.