title: Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders.
abstract: 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.
authors.affiliation: Institute of Human Genetics, University Hospital Magdeburg, Germany.
authors.forename: Denny
authors.initials: D
authors.lastname: Schanze
authors.forename: Magdalena
authors.initials: M
authors.lastname: Harakalova
authors.forename: Cathy A
authors.initials: CA
authors.lastname: Stevens
authors.forename: Francesco
authors.initials: F
authors.lastname: Brancati
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: Peter
authors.initials: P
authors.lastname: Farndon
authors.forename: Victor E F
authors.initials: VE
authors.lastname: Ferraz
authors.forename: Donna M
authors.initials: DM
authors.lastname: McDonald-McGinn
authors.forename: Elaine H
authors.initials: EH
authors.lastname: Zackai
authors.forename: Michael
authors.initials: M
authors.lastname: Wright
authors.forename: Stef
authors.initials: S
authors.lastname: van Lieshout
authors.forename: Maartje J
authors.initials: MJ
authors.lastname: Vogel
authors.forename: Mieke M
authors.initials: MM
authors.lastname: van Haelst
authors.forename: Martin
authors.initials: M
authors.lastname: Zenker
mesh_terms: D000015:Abnormalities, Multiple / Q000209:etiology / Q000235:genetics* / Q000503:physiopathology*; D002352:Carrier Proteins / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics; D005124:Eye Abnormalities / Q000209:etiology / Q000235:genetics* / Q000503:physiopathology*; D005260:Female; D058497:Fraser Syndrome / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008265:Macrostomia / Q000209:etiology / Q000235:genetics* / Q000503:physiopathology*; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D010641:Phenotype
chemical_list: D002352:Carrier Proteins; D016326:Extracellular Matrix Proteins; C475145:FRAS1 protein, human; C500786:FREM2 protein, human; C491310:GRIP1 protein, human; D009419:Nerve Tissue Proteins
keywords: Fraser syndrome; ablepharon macrostomia syndrome; cryptophthalmos; genitourinary anomalies; syndactyly