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Ablepharon Macrostomia Syndrome: A Distinct Genetic Entity Clinically Related to the Group of FRAS-FREM Complex Disorders

Lookup NU author(s): Dr Michael Wright


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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. (c) 2013 Wiley Periodicals, Inc.

Publication metadata

Author(s): Schanze D, Harakalova M, Stevens CA, Brancati F, Dallapiccola B, Farndon P, Ferraz VEF, McDonald-McGinn DM, Zackai EH, Wright M, van Lieshout S, Vogel MJ, van Haelst MM, Zenker M

Publication type: Article

Publication status: Published

Journal: American Journal of Medical Genetics Part A

Year: 2013

Volume: 161

Issue: 12

Pages: 3012-3017

Print publication date: 01/12/2013

Online publication date: 25/09/2013

Acceptance date: 02/06/2013

ISSN (print): 1552-4825

ISSN (electronic): 1552-4833

Publisher: Wiley-Blackwell


DOI: 10.1002/ajmg.a.36119

PubMed id: 24115501


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Funder referenceFunder name
N01-HD-4-3368NICHD Brain and Tissue Bank for Developmental Disorders
N01-HD-4-3383NICHD Brain and Tissue Bank for Developmental Disorders